Prof. Sibel Aylin UĞUR İŞERİ

Education

2002 - 2008

Doctorate

Bogazici University, Instıtute Of Scıence, Moleküler Biyoloji Ve Genetik, Turkey

2000 - 2002

Postgraduate

Bogazici University, Instıtute Of Scıence, Moleküler Biyoloji Ve Genetik, Turkey

1996 - 2000

Undergraduate

Bogazici University, Fen Edebiyat Fakültesi, Moleküler Biyoloji Ve Genetik, Turkey

Dissertations

2008

Doctorate

GENOM TARAMASINDAN HASTALIK GENİ TANIMLANMASINA

Bogazici University, Fen Bilimleri Enstitüsü, Moleküler Biyoloji Ve Genetik

2002

Postgraduate

BEŞ KALITSAL HASTALIKTA LOKUS VE GEN ANALİZI

Bogazici University, Fen Bilimleri Enstitüsü, Moleküler Biyoloji Ve Genetik

Foreign Languages

C1 Advanced

English

Certificates, Courses and Trainings

2013

Avrupa Birliği Projeleri Proje Yönetimi Sertifikası (Zertifizierter EU Project Manager 2013) European Certification and Qualification Association (Avusturya)

Education Management and Planning

AB Ofisi

Research Areas

Life Sciences

Bioinformatics

Molecular Biology and Genetics

Genetic Disorders

Genomics

Neurobiology

Natural Sciences

Academic Positions

2019 - Present

Professor

Istanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Genetics

2013 - 2019

Associate Professor

Istanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Genetics

2008 - 2009

Research Assistant PhD

University of Oxford, Department Of Physiology, Anatomy And Genetics, Department Of Physiology, Anatomy And Genetics

2002 - 2008

Research Assistant

Bogazici University, Instıtute Of Scıence, Moleküler Biyoloji Ve Genetik

Non Academic Experience

2008 - 2009

Postdoctoral Fellow

University of Oxford, Postdoctoral Fellow

2002 - 2008

Araştırma Görevlisi

Boğaziçi Üniversitesi, Araştırma Görevlisi

Courses

Doctorate

Human Genetics

İleri Moleküler Genetik

Postgraduate

Moleküler Genetik

Bioinformatics for Health Research (Biyo-Sağlık Bilişimi İngilizce Yüksek Lisans Programı)

Bioinformatics (İngilizce)

Undergraduate

Genetics

Molecular Evolution and Biodiversity

Supervised Theses

2019

Postgraduate

Progresif Miyoklonik Epilepsilerde Tüm Ekzom Dizileme Yöntemi ile İlişkili Genlerinin Araştırılması

UĞUR İŞERİ S. A.

G.Haryanyan(Student)

2019

Doctorate

Zihinsel yetmezlik ile ilişkili yeni gen varyantlarının araştırılması

UĞUR İŞERİ S. A.

F.Yeşim(Student)

2019

Doctorate

Beyinde Demir Birikimi ile Nörodejenerasyon Hastalığından Sorumlu Yeni Gen Varyantlarının Arsatırılması

UĞUR İŞERİ S. A.

N.Hande(Student)

2018

Postgraduate

GLUT1 Eksikliği Sendromunda Genetik Analizler

UĞUR İŞERİ S. A.

C.Örnek(Student)

2017

Doctorate

Febril Nöbet Sonrası Epileptogenez Sürecinin Araştırılması

UĞUR İŞERİ S. A.

Ö.Özdemir(Student)

2016

Doctorate

Ailevi Epilepsilerde Tüm Genom Analizleri

UĞUR İŞERİ S. A.

E.Yücesan(Student)

2014

Postgraduate

İnsan genomundaki kopya sayısı değişikliklerinin SNP array yöntemi kullanılarak incelenmesi ve tespit edilen değişikliklerin validasyonu

UĞUR İŞERİ S. A.

F.Yeşim(Student)

Articles

2025

1. Missense variants in PKAN: insights from a multi-patient genetic analysis

Kılıç M., Mercan S., Barut B. Ö., Demirkıran D. M., Yalçın Çakmaklı G., Akçakaya N. H., et al.

Neurogenetics , vol.26, pp.82-90, 2025 (Peer-Reviewed Journal)

2025

2. Quantitative Iron Measurements in the Basal Ganglia of NBIA Patients Using QSM: Insights From a Tertiary Center

Uygun Ö., Özcan A., Aras F. K., Bozdemir E., Uğur İşeri S., GÜLTEKİN M., et al.

Annals of Clinical and Translational Neurology , vol.12, no.11, pp.2305-2316, 2025 (SCI-Expanded, Scopus)

2025

3. QSM-Based Evidence of Brain Iron Accumulation in THAP1 Dystonia with Biallelic Mutation

Tarhan G., Kamaci I., Dusek P., ÇAPAN N., Sayman C., Turan C., et al.

Movement Disorders Clinical Practice , 2025 (SCI-Expanded, Scopus)

2024

4. Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Berkovic S. F., Neale B. M., Zsurka G., Zizovic M., Zimprich F., Zara F., et al.

Nature Neuroscience , vol.27, no.10, pp.1864-1879, 2024 (SCI-Expanded)

2024

5. Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring.

Susgun S., YÜCESAN E., GÖNCÜ B. S., Hasanoglu Sayin S., KINA Ü. Y., ÖZGÜL C., et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology , vol.45, no.5, pp.2271-2277, 2024 (SCI-Expanded)

2024

6. Targeted resequencing reveals high-level mosaicism for a novel frameshift variant in WDR45 associated with beta-propeller protein-associated neurodegeneration

Susgun S., Demirel M., Yalçın Çakmaklı G., Salman B., Oguz K. K., Elibol B., et al.

International Journal of Neuroscience , vol.134, no.10, pp.1040-1045, 2024 (SCI-Expanded)

2024

7. Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3)

Susgun S., Ben-Mahmoud A., Rüschendorf F., Ku B., Hussain S. I., Schulz S., et al.

Human Mutation , vol.2024, 2024 (SCI-Expanded)

2023

8. Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.

Montanucci L., Collins R. L., Niestroj L., Parthasarathy S., Xian J., Ganesan S., et al.

Nature communications , vol.14, no.1, pp.4392, 2023 (SCI-Expanded)

2023

9. Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder

Susgun S., Kesim Y., Khalilov D., Sirin N. G., Gezegen H., Salman B., et al.

NEUROLOGICAL SCIENCES , vol.44, no.7, pp.2527-2540, 2023 (SCI-Expanded)

2023

10. An Extraordinary EEG Phenomenon Misdiagnosed as Nonconvulsive Status Epilepticus: Frequent Subclinical Periodic Discharges Terminated by Sudden Auditory Stimuli.

Oguz-Akarsu E., Salman B., Ugur-Iseri S. A., Baykan B.

Clinical EEG and neuroscience , vol.54, no.2, pp.160-163, 2023 (SCI-Expanded)

2023

11. Obstacles and expectations of rare disease patients and their families in Turkiye: ISTisNA project survey results

HATIRNAZ NG Ö., Sahin I., ERBİLGİN Y., ÖZDEMİR Ö., YÜCESAN E., Erturk N., et al.

FRONTIERS IN PUBLIC HEALTH , vol.10, 2023 (SCI-Expanded)

2023

12. Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity.

Mercan S., Akcakaya N. H., Salman B., Yapici Z., Ozbek U., Ugur Iseri S. A.

Genes & genomics , vol.45, no.1, pp.13-21, 2023 (SCI-Expanded)

2022

13. Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic ELP2 variation in three siblings.

Khalilov D., Haryanyan G., Salman B., YÜCESAN E., Ugur Iseri S. A., Bebek N.

Neurocase , vol.28, no.6, pp.488-492, 2022 (SCI-Expanded)

2022

14. Quantitative Measurement of Iron in NBIA patients with Quantitative Susceptibility Mapping and Clinical Evaluation

Uygun O., Iseri S. U., Ozcan A., DİNÇER A., Yapici Z.

EUROPEAN JOURNAL OF NEUROLOGY , vol.29, pp.626, 2022 (SCI-Expanded)

2022

15. Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1.

Takahashi T., Mercan S., Sassa T., BAYRAM AKÇAPINAR G., Yararbas K., SÜSGÜN S., et al.

Brain & development , vol.44, no.6, pp.391-400, 2022 (SCI-Expanded)

2022

16. Two cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical follow-up.

Mercan S., Ugur Iseri S. A., Yigiter R., Akcakaya N. H., Saka E., Yapici Z.

Neurocase , vol.28, no.1, pp.37-41, 2022 (SCI-Expanded)

2021

17. The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey.

Haryanyan G., Ozdemir O., Tutkavul K., Dervent A., Ayta S., ÖZKARA Ç., et al.

Journal of human genetics , vol.66, no.12, pp.1145-1151, 2021 (SCI-Expanded)

2021

18. Distinct gene-set burden patterns underlie common generalized and focal epilepsies

Koko M., Krause R., Sander T., Bobbili D. R., Nothnagel M., May P., et al.

EBIOMEDICINE , vol.72, 2021 (SCI-Expanded)

2021

19. Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations

Stevelink R., Luykx J. J., Lin B. D., Leu C., Lal D., Smith A. W., et al.

EPILEPSIA , vol.62, no.7, pp.1518-1527, 2021 (SCI-Expanded)

2021

20. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Motelow J. E., Povysil G., Dhindsa R. S., Stanley K. E., Allen A. S., Feng Y. A., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , no.6, pp.965-982, 2021 (SCI-Expanded)

2021

21. **COMBINED ANALYSIS OF LINKAGE AND WHOLE EXOME SEQUENCING REVEALS CIC AS A CANDIDATE GENE FOR ISOLATED DYSTONIA**

Salman B., YÜCESAN E., SAMANCI B., BİLGİÇ B., HANAĞASI H. A., Gurvit I., et al.

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI , vol.84, no.4, pp.457-463, 2021 (ESCI)

2020

22. SCREENING SLC2A1 GENE FOR SEQUENCE AND COPY NUMBER VARIATIONS ASSOCIATED WITH GLUT-1 DEFICIENCY SYNDROME

Ornek Erguzeloglu C., KARA B., Karacan I., Ozdemir O., Kesim Y., Bebek N., et al.

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI , vol.83, no.3, pp.177-183, 2020 (ESCI)

2020

23. Effect of the brain-derived neurotrophic factor gene Val66Met polymorphism on sensory-motor integration during a complex motor learning exercise.

Deveci S., Matur Z., Kesim Y., Senturk Ş., Sargın-Kurt G., Ugur U., et al.

Brain research , vol.1732, pp.146652, 2020 (SCI-Expanded)

2019

24. Polygenic burden in focal and generalized epilepsies.

Leu C., Stevelink R., Smith A. W., Goleva S. B., Kanai M., Ferguson L., et al.

Brain : a journal of neurology , vol.142, no.11, pp.3473-3481, 2019 (SCI-Expanded)

2019

25. SCREENING SLC2A1 GENE FOR SEQUENCE AND COPY NUMBER VARIATIONS ASSOCİATED WITH GLUT-1 DEFICIENCY SYNDROME

Örnek Ergüzeloğlu C., Kara B., Karacan İ., Özdemir Ö., Kesim Y., BEBEK N., et al.

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI , vol.21, pp.1-7, 2019 (Peer-Reviewed Journal)

2019

26. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Feng Y. A., Howrigan D. P., Abbott L. E., Tashman K., Cerrato F., Singh T., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , no.2, pp.267-282, 2019 (SCI-Expanded)

2019

27. Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability

Iseri S. A., YÜCESAN E., Tuncer F. N., Calik M., Kesim Y., Uzun G. A., et al.

JOURNAL OF HUMAN GENETICS , vol.64, no.5, pp.421-426, 2019 (SCI-Expanded)

2019

28. A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis.

Akcakaya N. H., Salman B., Gormez Z., Arguden Y. T., Cirakoglu A., Cakmur R., et al.

Neuromolecular medicine , vol.21, no.1, pp.54-59, 2019 (SCI-Expanded)

2019

29. Identification of epilepsy related pathways using genome-wide DNA methylation measures: A trio-based approach

OZDEMIR O., EGEMEN E., Ugur I., SEZERMAN O., Bebek N., Baykan B., et al.

PLOS ONE , vol.14, no.2, 2019 (SCI-Expanded)

2019

30. Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype.

Akcakaya N. H., Haryanyan G., Mercan S., Sozer N., Ali A., Tombul T., et al.

Neurologia i neurochirurgia polska , vol.53, no.6, pp.476-483, 2019 (SCI-Expanded)

2018

31. A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family

Tuncer F. N., Iseri S. A., Yapici Z., Demir M., Karaca M., Calik M.

NEUROLOGICAL SCIENCES , vol.39, no.12, pp.2123-2128, 2018 (SCI-Expanded)

2018

32. Investigation of SLC2A1 gene variants in genetic generalized epilepsy patients with eyelid myoclonia

ALTıOKKA-UZUN G., OZDEMIR O., Uğur-İşeri S. A., Bebek N., Gürses C., Özbek U., et al.

EPILEPTIC DISORDERS , vol.20, no.5, pp.396-400, 2018 (SCI-Expanded)

2018

33. Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span.

Yucel-Yilmaz D., Yucesan E., YALNIZOĞLU D., Oguz K. K., SAGIROGLU M. S., Ozbek U., et al.

Brain & development , vol.40, no.6, pp.458-464, 2018 (SCI-Expanded)

2018

34. Third-line treatment with second-generation tyrosine kinase inhibitors (dasatinib or nilotinib) in patients with chronic myeloid leukemia after two prior TKIs: real-life data on a single center experience along with the review of the literature.

Ongoren S., Eskazan A. E., Suzan V., Savci S., Ozunal I. E., Berk S., et al.

Hematology (Amsterdam, Netherlands) , vol.23, no.4, pp.212-220, 2018 (SCI-Expanded)

2017

35. SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey

Yucesan E., UĞUR İŞERİ S. A., Bilgic B., Gormez Z., Bakir Gungor B., Sarac A., et al.

NEUROLOGICAL SCIENCES , vol.38, no.12, pp.2203-2207, 2017 (SCI-Expanded)

2017

36. Clinical and genetic features of PKAN patients in a tertiary centre in Turkey

AKÇAKAYA N., Iseri S. A., BILIR B., BATTALOGLU E., TEKTURK P., GULTEKIN M. H., et al.

CLINICAL NEUROLOGY AND NEUROSURGERY , pp.34-42, 2017 (SCI-Expanded)

2017

37. Differential Diagnosis of Bithalamic and Pallidal Hypointensity - a Case of HEXB Mutation

Akcakaya N. H., Ozdemir O., Gokcay F. G., Iseri S. A., Yapici Z.

CESKA A SLOVENSKA NEUROLOGIE A NEUROCHIRURGIE , vol.80, no.3, pp.343-345, 2017 (SCI-Expanded)

2017

38. Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders

Holt R., Iseri S. A., Wyatt A. W., Bax D. A., Diaz D. G., Santos C., et al.

HUMAN GENETICS , vol.136, no.1, pp.119-127, 2017 (SCI-Expanded)

2016

39. Kopya Sayısı Değişikliklerinin SNP Array ile Tespiti- Detection of Copy Number Variations using SNP arrays

UĞUR İŞERİ S. A.

Türkiye Klinikleri J Pediatr Sci. , vol.12, no.4, pp.54-59, 2016 (Peer-Reviewed Journal)

2016

40. **A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia**

Yapici Z., Akcakaya N. H., Tekturk P., Iseri S. A., Ozbek U.

BRAIN & DEVELOPMENT , no.8, pp.755-758, 2016 (SCI-Expanded)

2016

41. Screening LGI1 in a cohort of 26 lateral temporal lobe epilepsy patients with auditory aura from Turkey detects a novel de novo mutation

Kesim Y. F., Uzun G. A., Yucesan E., Tuncer F. N., Ozdemir O., Bebek N., et al.

EPILEPSY RESEARCH , vol.120, pp.73-78, 2016 (SCI-Expanded)

2015

42. A clinical variant in SCN1A inherited from a mosaic father cosegregates with a novel variant to cause Dravet syndrome in a consanguineous family

Tuncer F. N., Görmez Z., Calik M., Uzun G. A., SAGIROGLU M. S., YUCETURK B., et al.

EPILEPSY RESEARCH , vol.113, pp.5-10, 2015 (SCI-Expanded)

2015

43. Tüm Genom SNP Genotipleme ile Trizomi ve Ebeveyn Etkisinin Tespiti

Kesim F. Y., TUNCER KILINÇ F. N., YUCESAN E., OZDEMIR O., CALIK M., ÖZBEK U., et al.

Deneysel Tıp Degisi , vol.3, no.7, pp.22-27, 2015 (Peer-Reviewed Journal)

2014

44. Tüm Genom SNP Genotipleme ile Trizomi ve Ebeveyn Etkisinin Tespiti

Kesim F. Y., TUNCER KILINÇ F. N., YUCESAN E., OZDEMIR O., CALIK M., ÖZBEK U., et al.

Deneysel Tıp Dergisi , vol.3, no.7, pp.22-27, 2014 (Peer-Reviewed Journal)

2013

45. Identifying SNP targeted pathways in partial epilepsies with genome-wide association study data

Bakir-Gungor B., Baykan B., Iseri S. U., Tuncer F. N., Sezerman O. U.

EPILEPSY RESEARCH , vol.105, pp.92-102, 2013 (SCI-Expanded)

2011

46. A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures

Yildirim Y., Orhan E., Iseri S. A. U., Serdaroglu-Oflazer P., KARA B., Solakoglu S., et al.

HUMAN MOLECULAR GENETICS , vol.20, no.10, pp.1886-1892, 2011 (SCI-Expanded)

2011

47. Nörogenetikte bağlantı analizinin kullanımı

UĞUR İŞERİ S. A., ÖZBEK U.

Türkiye Klinikleri J Neurol-Special Topics , vol.4, no.2, pp.11-15, 2011 (Peer-Reviewed Journal)

2010

48. Early-Onset Progressive Myoclonic Epilepsy With Dystonia Mapping to 16pter-p13.3

Duru N., UĞUR İŞERİ S. A., Selcuk N., TOLUN A.

JOURNAL OF NEUROGENETICS , vol.24, no.4, pp.207-215, 2010 (SCI-Expanded)

2010

49. A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.

Ugur I., DURLU Y., TOLUN A.

European journal of human genetics : EJHG , vol.18, pp.1121-6, 2010 (SCI-Expanded)

2010

50. Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy

Iseri S. A., Wyatt A. W., NUERNBERG G., KLUCK C., NUERNBERG P., Holder G. E., et al.

HUMAN GENETICS , vol.128, no.1, pp.51-60, 2010 (SCI-Expanded)

2010

51. Sonic Hedgehog Mutations Are an Uncommon Cause of Developmental Eye Anomalies

Bakrania P., Iseri S. A., Wyatt A. W., BUNYAN D. J., Lam W. W. K., Salt A., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , no.5, pp.1310-1313, 2010 (SCI-Expanded)

2009

52. Seeing Clearly: The Dominant and Recessive Nature of FOXE3 in Eye Developmental Anomalies

Iseri S. A., Osborne R. J., Farrall M., Wyatt A. W., Mirza G., NUERNBERG G., et al.

HUMAN MUTATION , vol.30, no.10, pp.1378-1386, 2009 (SCI-Expanded)

2008

53. Very-late-onset pyridoxine-dependent seizures not linking to the known 5q31 locus.

KABAKUS N., AYDIN M., Ugur S. A., DURUKAN M., TOLUN A.

Pediatrics international : official journal of the Japan Pediatric Society , vol.50, pp.703-5, 2008 (SCI-Expanded)

2008

54. Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation

Ugur S. A., Tolun A.

HUMAN MOLECULAR GENETICS , vol.17, no.17, pp.2644-2653, 2008 (SCI-Expanded)

2008

55. A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract

Ugur S. A., Tolun A.

EUROPEAN JOURNAL OF HUMAN GENETICS , vol.16, no.2, pp.261-264, 2008 (SCI-Expanded)

2006

56. Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis

CORUT A., SENYIGIT A., Ugur S. A., ALTIN S., OZCELIK U., CALISIR H., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , vol.79, no.4, pp.650-656, 2006 (SCI-Expanded)

2006

57. Severe form of Cockayne syndrome with varying clinical presentation and no photosensitivity in a family.

SONMEZ F., CELEP F., Ugur S. A., TOLUN A.

Journal of child neurology , vol.21, pp.333-7, 2006 (SCI-Expanded)

2004

58. Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32.

ONENGÜT S., Uğur S. A., KARASOY H., YÜCEYAR N. S., TOLUN A.

Neuromuscular disorders : NMD , vol.14, pp.4-9, 2004 (SCI-Expanded)

2003

59. Is the novel SCKL3 at 14q23 the predominant Seckel locus?

KILINC M., NINIS V., Ugur S. A., Tuysuz B., Seven M., BALCI S., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , vol.11, no.11, pp.851-857, 2003 (SCI-Expanded)

Papers Presented at Peer-Reviewed Scientific Conferences

2025

1. Characterizing Immune Cell Dynamics in Anti-NMDAR Encephalitis via Single-Cell Transcriptomics

Şanlı E., Karaaslan Z., Yılmaz V., Uygunoğlu U., Uğur İşeri S. A., Tüzün E.

IMMUNOLOGY2025, Hawaii, United States Of America, 3 - 07 May 2025, (Unpublished)

2024

2. ISTisNA Platform: A Comprehensive Biobank Network for Rare and Undiagnosed Diseases

Antmen F. M., KASAP B., Erdogan C., Kılıç M., Kocaaga S., Önder G., et al.

Europe Biobank Week Congress 2024, Viyana, Austria, 14 - 17 May 2024, (Summary Text)

2024

3. ISTisNA Platform: A Comprehensive Biobank Network for Rare and Undiagnosed Diseases

Kasap B., Kılıç M., Uğur İşeri S. A.

Europe Biobank Week Congress , Vienna, Austria, 14 - 17 May 2024, pp.1, (Summary Text)

2024

4. Mitokondriyal-Membran Proteini İlişkili Nörodejenerasyona Neden Olan C19orf12 Geni 5’UTR Varyantının İn Siliko Analizleri

Kılıç M., Salman B., Süsgün S., Yücesan E., Uğur İşeri S. A., Yapıcı Obuz Z.

1. Nörogenetik ve Nörometabolizma Kongresi, İstanbul, Turkey, 9 - 11 May 2024, (Unpublished)

2023

5. Nadir Nörogenetik Bir Hastalik Modeli Olarak Epileptik Ensefelopatilerde Trio Ekzom Dizileme Analizleri

Karaaslan Z., Salman B., Ovamigyan S. A., Kılıç M., Çırak S., Uğur İşeri S. A., et al.

59. Ulusal Nöroloji Kongresi, Antalya, Turkey, 13 - 18 December 2023, pp.25, (Summary Text)

2023

6. Multiple Rating Scales in 17 patients with Mitochondrial-membrane Protein Associated Neurodegeneration

SAYMAN C., ÇAPAN N., TOPALOĞLU P., UĞUR İŞERİ S. A., ÖZDEMİR S., BASLO M. B., et al.

17th Congress of the European Forum for Research in Rehabilitation, 02 November 2023, (Full Text)

2022

7. Two candidate genes with biallelic variants associated with a neurodevelopmental disorder in a consanguineous family from Turkey

Susgun S., Kesim Y., Salman B., YÜCESAN E., Khalilov D., ŞİRİN İNAN N. G., et al.

55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, Austria, 11 - 14 June 2022, pp.202, (Summary Text)

2022

8. KRONİK MİYELOİD LÖSEMİ HASTALARINDA FARKLI BCR::ABL1 TRANSKRİPTLERİNİN KLİNİK YANSIMALARI

Ordu M., Erbilgin Y., Yılmaz U., Eşkazan A. E., Altındirek D., Uğur İşeri S. A., et al.

48. Ulusal Hematoloji Kongresi, Antalya, Turkey, 1 - 05 November 2022, pp.126-127, (Full Text)

2017

9. Outcomes of a Biobanking Initiative from Turkey: ‘Investing in the Future: BIOBANK

ERBİLGİN Y., TUNCER F. N., UĞUR İŞERİ S. A., Khodzhaev K., ÖZBEK U.

Global Biobank Week, 13 - 15 September 2017, (Summary Text)

2017

10. Towards an Epilepsy Biobank

Haryanyan G., Özdemir Ö., Yücesan E., TUNCER F. N., Kesim F. Y., ERBİLGİN Y., et al.

Global Biobank Week, 13 - 15 September 2017, (Summary Text)

2016

11. Investing in the Future BIOBANK

ERBİLGİN Y., TUNCER F. N., Haryanyan G., Khodzhaev K., UĞUR İŞERİ S. A., ÖZBEK U.

European Biobank Week 2016, 13 - 16 September 2016

2016

12. Exome Sequencing Combined with Linkage Analysis Identifies a Novel Gene Associated with a Syndromic Form of Intellectual Disability

Kesim Y., Çalık M., Tuncer F. N., İşcan A., Uzun G., Özbek U., et al.

European Society of Human Genetics 2016, Barselona, Spain, 21 - 26 May 2016, pp.175, (Full Text)

2016

13. Glut1 eksikliği sendromu klinik fenotipleri

KARA B., ÖZDEMİR Ö., MARAŞ GENÇ H., UYUR YALÇIN E., SAKARYA GÜNEŞ A., UĞUR İŞERİ S.

18. ULUSAL ÇOCUK NÖROLOJİ KONGRESİ, Antalya, Turkey, 20 April 2016, (Summary Text)

2014

14. Correlation between phenotypic and genotypic tetracycline resistance of Escherichia coli isolates from food of animal origin

Muratoglu K., Özdemir Ö., Eker F. Y., Bayrakal M., Levent G., Ugur S. A., et al.

European Biotechnology Congress, Lecce, Italy, 15 - 18 May 2014, vol.185, (Summary Text)

Books

2024

1. Temel Genetik Kavramlar

Güven Z. G., Yalçın Çapan Ö., Uğur İşeri S. A. (Editor)

in: Tanıdan Tedaviye Nörogenetik, Hacer Durmuş,Nerses Bebek,Sibel Uğur İşeri,Esra Battaloğlu, Editor, Bayçınar Tıbbi Yayıncılık, Ankara, pp.11-13, 2024

2021

2. Nadir Nörolojik Hastalıklarda Gen Avcılığı

Uğur İşeri S. A.

in: Türkiye Klinikleri Tıbbi Genetik - Özel Konular, Prof. Dr. Uğur ÖZBEK, Editor, Türkiye Klinikleri Yayınevi, İstanbul, pp.56-63, 2021

2021

3. Biyobankalar

Erbilgin Y., Uğur İşeri S. A., Özbek U.

in: Tıp Bilişimi, Nilgün Bozbuğa,Sevinç Gülseçen, Editor, Istanbul University, İstanbul, pp.159-169, 2021

2017

4. Biyobankalamada Protokol ve Kalite Kılavuzu

ERBİLGİN Y., UĞUR İŞERİ S. A., Khodzhaev K., Haryanyan G.

İstanbul Medikal Sağlık ve Yayıncılık Hiz. Tic. Ltd. Şti., İstanbul, 2017

Other Publications

2017

1. Febril nöbet sonrası epileptogenez sürecinin araştırılması

Özdemir Ö., Uğur Işeri S. A.

Other, pp.1-100, 2017

Funded Projects

2019 - Present

Nörodejeneratif ve Nöroinflamatuvar Hastalıklar Araştırma Birimi - NöroDİAB

CB Strateji ve Bütçe Başkanlığı (Kalkınma Bakanlığı) Projesi

(Project Abstract)

DENİZ G. (Executive), DURSUN E., GEZEN AK D., HANAĞASI H. A., BİLGİÇ B., ABACI N., et al.

2024 - 2025

İÜ Aziz Sancar DETAE Biyobankasının Kalite Standartlarının Sürdürülmesi Kapsamında Altyapı Sürekliliği İlk Basamak Desteği

Project Supported by Higher Education Institutions , BAP Other

UĞUR İŞERİ S. A. (Executive), SAYİTOĞLU M., ERBİLGİN Y.

2021 - 2025

Anti-nöronal Antikor İlişkili Otoimmün Epilepside B Hücre Ekspresyon Analizinin Biyobelirteç Potansiyelinin Araştırılmasında Transkriptomik Yaklaşımı

Project Supported by Higher Education Institutions , BAP Research Project

UĞUR İŞERİ S. A. (Executive), ŞİRİN İNAN N. G., BEBEK N., KARAASLAN Z., YILMAZ V., KÜÇÜKALİ C. İ., et al.

2022 - 2024

İSTisNA Istanbul Solution Platform for Undiagnosed and Rare Diseases

Development Agency

(Project Abstract)

Özbek U.(Executive), Uğur İşeri S. A., Hatırnaz Ng Ö., Erbilgin Y., Ulca P., Alanay Y., et al.

2021 - 2024

Sınıflandırılamayan ve nadir epileptik ensefalopati tanılı hastalarda tüm ekzom dizileme analizi

Project Supported by Higher Education Institutions , BAP Research Project

TOPALOĞLU P. (Executive), ÇIRAK S., KİZEK Ö., KARAASLAN Z., KARACAN İ., TÜZÜN E., et al.

2017 - 2020

Progresif Miyoklonik Epilepsilerin Genetik Analizi

Project Supported by Higher Education Institutions , BAP Other

UĞUR İŞERİ S. A. (Executive), HARYANYAN G., SALMAN S. B.

2017 - 2020

Mikrosefalinin Eşlik Ettiği Zihinsel Yetmezlik Hastalarında İlişkili Gen Varyantlarının Araştırılması

Project Supported by Higher Education Institutions , BAP PhD

UĞUR İŞERİ S. A. (Executive), MERCAN S.

2018 - 2019

Yarık ElAyak Yapısal Bozukluğunun Genomik Teknikler ve Biyoenformatik Yaklaşımlarla İncelenmesi

Project Supported by Higher Education Institutions , BAP MSc

UĞUR İŞERİ S. A. (Executive), SALMAN S. B.

2017 - 2019

Zihinsel Yetmezlik ile İlişkili Yeni Gen Varyantlarının Araştırılması

Project Supported by Higher Education Institutions , BAP PhD

UĞUR İŞERİ S. A. (Executive)

2017 - 2019

Beyinde Demir Birikimi ile Nörodejenerasyon Hastalığından Sorumlu Yeni Gen Varyantlarının Araştırılması

Project Supported by Higher Education Institutions , BAP PhD

UĞUR İŞERİ S. A. (Executive), AKÇAKAYA N. H.

2017 - 2018

GLUT1 eksikliği sendromunda genetik analizler

Project Supported by Higher Education Institutions , BAP MSc

UĞUR İŞERİ S. A. (Executive), ÖRNEK C.

2015 - 2017

Geleceğe Yatırım: BİYOBANKA

Project Supported by Other Official Institutions

TUNCER KILINÇ F. N., UĞUR İŞERİ S. A., TÜRKER ŞENER L., ERBİLGİN Y.

2015 - 2017

Beyinde demir birikimi ile nörodejenerasyonu olan hastaların genetik analizi

Project Supported by Higher Education Institutions , BAP Research Project

HANAĞASI H. A., UĞUR İŞERİ S. A.

2016 - 2016

A novel mutation in PCDH19 enabled genetic diagnosis as Epilepsy and Mental Retardation Limited to Females

Project Supported by Higher Education Institutions , BAP Other

TUNCER KILINÇ F. N. (Executive), UĞUR İŞERİ S. A., ÖZBEK U., KARA B., MARAŞ GENÇ H., UYUR YALÇIN E.

2016 - 2016

Clinical and Genetic Features of PKAN Patients in a Tertiary Center in Turkey

Project Supported by Higher Education Institutions , BAP Other

ÖZBEK U. (Executive), UĞUR İŞERİ S. A., HANAĞASI H. A., CEYLAN N. H., YAPICI Z., ERAKSOY M., et al.

2016 - 2016

Exome Sequencing Combined with Linkage Analysis Identifies a Novel Gene Associated with a Syndromic Form of Intellectual Disability

Project Supported by Higher Education Institutions , BAP Other

UĞUR İŞERİ S. A. (Executive), İŞCAN A., ÖZBEK U., ÇALIK M., KESİM F. Y., TUNCER F. N.

2015 - 2016

AİLEVİ EPİLEPSİLERDE TÜM GENOM ANALİZLERİ

Project Supported by Higher Education Institutions , BAP PhD

UĞUR İŞERİ S. A. (Executive)

2014 - 2015

İNSAN GENOMUNDAKİ KOPYA SAYISI DEĞİŞİKLİKLERİNİN SNP ARRAY YÖNTEMİ KULLANILARAK İNCELENMESİ VE TESPİT EDİLEN DEĞİŞİKLİKLERİN VALİDASYONU

Project Supported by Higher Education Institutions , BAP MSc

UĞUR İŞERİ S. A. (Executive)

2014 - 2015

İdyopatik Jeneralize Epilepsi ile İlişkili rs113904207 İsimli Nadir Varyantın Sıklığının Tespiti

Project Supported by Higher Education Institutions , BAP Other

UĞUR İŞERİ S. A. (Executive)

2011 - 2014

Nadir Epilepsi Sendromları Genetiği

TUBITAK Project

UĞUR İŞERİ S. A.

2012 - 2013

Epilepsi ile ilgili aday genlerde mutasyon analizi için optimizasyon çalışması

Project Supported by Higher Education Institutions , BAP Other

UĞUR İŞERİ S. A. (Executive)

2010 - 2013

İdyopatik Jeneralize Epilepsilerde Tüm Genom Metilom Analizi

TUBITAK Project

2007 - 2011

EPICURE: Functional Genomics and Neurobiology of Epilepsy: a basis for new therapeutic strategies

EU Framework Program Project

UĞUR İŞERİ S. A.

2008 - 2009

Novel approaches for the genetic diagnosis of eye developmental disorders-NewLife Foundation for Disabled Children. İngiltere

Other International Funding Programs

UĞUR İŞERİ S. A.

2002 - 2008

Monogenik hastalıklar için 400 bireyde genotipleme - NHLBI Mammalian Genotyping Service, Marshfield Clinic Research Foundation

Other International Funding Programs

UĞUR İŞERİ S. A.

2004 - 2004

Nadir hastalık genleri belirlenmesi

CB Strateji ve Bütçe Başkanlığı (Kalkınma Bakanlığı) Projesi

UĞUR İŞERİ S. A.

Memberships and Roles in Scientific Organizations

2020 - Present

İstanbul Teknik Üniversitesi Sağlık ve Mühendislik Bilimleri İnsan deneyleri (SM-INAREK) Etik Kurulu

Member

2018 - Present

İstanbul Üniversitesi Epilepsi Uygulama ve Araştırma Merkezi (EPİMER) Yönetim Kurulu Üyesi

Board Member

2016 - Present

European Society of Human Genetics

Member

2016 - Present

American Society of Human Genetics

Member

2014 - Present

Türk Nöroloji Derneği

Member

Awards

December 2019

TÜBA GEBİP 2019

Türkiye Bilimler Akademisi

May 2010

Tüm genom bağlantı analizi ve aday gen incelemesi ile otozomal çekinik İJE’de genetik faktörlerin araştırılması

Beyin Araştırmaları Derneği-Boehringer-Ingelheim Proje Desteği

Congress and Symposium Activities

01 November 2018 - 01 November 2018

ZIHINSEL OGRENME YETERSIZLİGININ ESLIK ETTIGI MIKROSEFALI OLGULARINDA TU¨M EKZOM DIZILEME UYGULAMALARI. 13. Ulusal Tıbbi Genetik Kongresi.

Attendee

Antalya-Turkey

01 November 2018 - 01 November 2018

LATERAL TEMPORAL LOB EPİLEPSİLİ HASTALARDA GENETIK ANALIZLER. 13. Ulusal Tıbbi genetik Kongresi.

Attendee

-Turkey

01 May 2018 - 01 May 2018

GLUT1 EKSIKLIGI SENDROMUNDA SLC2A1 GENI KOPYA SAYISI DEGISIKLIKLERININ INCELENMESI. 11. Ulusal Epilepsi Kongresi.

Attendee

-Turkey

01 May 2018 - 01 May 2018

114 kisilik epilepsi kohortunda ekzom dizileme verisi ile SCN1A gen varyantlarının meta analizi. 11. Ulusal Epilepsi Kongresi.

Attendee

Muğla-Turkey

01 May 2018 - 01 May 2018

EPM4 ILE ILISKILI YENI SCARB2 VARYASYONUNUN TUM EKZOM DIZILEME YONTEMI ILE TESPITI. 11. Ulusal Epilepsi Kongresi.

Attendee

-Turkey

01 October 2017 - 01 October 2017

Exome sequencing identifies a novel FBXO38 variant inherited from a mosaic mother to cause Distal Hereditary Motor Neuronopathy Type IID with distinct features. 67th Annual Meeting of the American Society of Human Genetics

Attendee

Florida-United States Of America

01 September 2017 - 01 September 2017

Research Biobank for Leukemia.Global Biobank Week 2017

Attendee

Stockholm-Sweden

01 September 2017 - 01 September 2017

Towards an Epilepsy Biobank. Global Biobank Week 2017

Attendee

Stockholm-Sweden

01 September 2017 - 01 September 2017

Outcomes of a Biobanking Initiative from Turkey: ‘Investing in the Future: BIOBANK’.

Attendee

Stockholm-Sweden

01 November 2016 - 01 November 2016

GLUT1 eksikligi sendromunda genetik analizler. 53. Ulusal Nöroloji Kongresi.

Attendee

-Turkey

01 November 2016 - 01 November 2016

SENDROMIK ZIHINSEL YETMEZLIKTE TESPIT EDILEN YENI BIR GEN VE IN VITRO KARAKTERIZASYONU. 53. Ulusal Nöroloji Kongresi.

Attendee

-Turkey

01 November 2016 - 01 November 2016

Febril nöbet sonrası epoleptogenez sürecinin araştırılması. 53. Ulusal Nöroloji Kongresi.

Attendee

-Turkey

01 November 2016 - 01 November 2016

EPILEPSININ ESLIK ETTIGI ZIHINSEL YETMEZLIK VAKASINDA GENOMIK YAKLASIMLAR. 53. Ulusal Nöroloji Kongresi.

Attendee

Antalya-Turkey

01 September 2016 - 01 September 2016

Investing in the Future BIOBANK. Europe Biobank Week 2016

Attendee

Vienna-Austria

01 May 2016 - 01 May 2016

Exome Sequencing Combined with Linkage Analysis Identifies a Novel Gene Associated with a Syndromic Form of Intellectual Disability. European Human Genetics Conference 2016

Attendee

Barcelona-Spain

01 May 2016 - 01 May 2016

BENIGN FAMILYAL INFANTIL KONVULSIYONA SAHIP BIREYLERI OLAN GENIS BIR AILEDE PRRT2 GEN ANALIZININ GERCEKLESTIRILMESI. 10. Ulusal Epilepsi Kongresi.

Attendee

-Turkey

01 May 2016 - 01 May 2016

Clinical and Genetic Features of PKAN Patients in a Tertiary Center in Turkey. European Human Genetics Conference 2016

Attendee

Barcelona-Spain

01 May 2016 - 01 May 2016

GLUT1 YETMEZLIK SENDROMU ILE ILISKILI SLC2A1 DE NOVO GEN VARYANTLARININ TESPITI. 10. Ulusal Epilepsi Kongresi.

Attendee

-Turkey

01 May 2016 - 01 May 2016

FEBRIL NOBET SONRASI EPILEPTOGENEZ SURECININ GENOM BOYU ANALIZLERLE SICAN MODELINDE ARASTIRILMASI (GENOME-WIDE ANALYSIS OF EPILEPTOGENESIS ON FEBRILE SEIZURE RAT MODEL). 10. Ulusal Epilepsi Kongresi.

Attendee

-Turkey

01 May 2016 - 01 May 2016

LATERAL TEMPORAL LOB EPILEPSI HASTALARINDA GERCEKLESTIRILEN LGI1 TARAMASINDA YENI BIR DE NOVO MUTASYON TESPITI. 10. Ulusal Epilepsi Kongresi.

Attendee

İzmir-Turkey

01 May 2016 - 01 May 2016

A novel mutation in PCDH19 enabled genetic diagnosis as Epilepsy and Mental Retardation Limited to Females. European Human Genetics Conference 2016

Attendee

Barcelona-Spain

01 May 2016 - 01 May 2016

Genetic analysis of delayed motor mental development and Unverricht-Lundborg disease in a large highly consanguineous family from Turkey. European Human Genetics Conference 2016

Attendee

Barcelona-Spain

01 March 2016 - 01 March 2016

Mikrosefali-lenfödem-koryoretinaldisplazi-mikrooftalmi sendromlu bir olguda KIF11 gen mutasyonu ve 22q11.2. 3. Nörometabolik Dosmorfoloji Sempozyumu.

Attendee

İstanbul-Turkey

01 March 2016 - 01 March 2016

Krabbe Hastalığı: Yeni bir GALC gen varyantının tespiti ile akraba evliliği yapmış ailede ayırıcı tanının sağlanması. 3. Nörometabolik Dosmorfoloji Sempozyumu.

Attendee

-Turkey

01 November 2015 - 01 November 2015

RNA-SPESIFIK ADENOZIN DEAMINAZ (ADAR) GENINDE YENI BIR MUTASYONUN NEDEN OLDUGU AICARDI-GOUTIERES TIP 6 SENDROMU. 51. Ulusal Nöroloji Kongresi

Attendee

Antalya-Turkey

01 November 2015 - 01 November 2015

PANTOTENAT-KINAZ İLİŞKİLİ NÖRODEJENERASYON: KLINIK-GENETIK-RADYOLOJIK CALISMA. 51. Ulusal Nöroloji Kongresi

Attendee

-Turkey

01 October 2015 - 01 October 2015

MKA/MR olgularında kopya sayısı degisimlerinin SNP- array yöntemi ile incelenmesi ve validasyonu. 12. Ulusal Çocuk Genetik Sempozyumu

Attendee

Samsun-Turkey

01 October 2015 - 01 October 2015

Akraba evliligi yapmıs¸genis¸bir ailede birbirinden bagımsız olarak gozlenen Unverricht-Lundborg Hastalıgı ve Motor Mental Gelisme Geriliginin genetik olarak incelenmesi. 12. Ulusal Çocuk Genetik Sempozyumu

Attendee

-Turkey

01 June 2015 - 01 June 2015

A novel mutation in LGI1 gene found in a series of consecutive epileptic patients with auditory aura. European Human Genetics Conference 2015

Attendee

Glasgow-United Kingdom

01 June 2015 - 01 June 2015

A clinical variant in SCN1A inherited from a mosaic father cosegregates with a novel variant to cause Dravet syndrome in a consanguineous family. European Human Genetics Conference 2015

Attendee

Glasgow-United Kingdom

01 June 2015 - 01 June 2015

Combined analysis of linkage and exome sequencing identifies a novel elongation factor associated with intellectual disability and delayed motor development. European Human Genetics Conference 2015

Attendee

Glasgow-United Kingdom

01 June 2014 - 01 June 2014

Whole genome methylation analysis in idiopathic generalized epilepsies. European Human Genetics Conference 2014

Attendee

Milan-Italy

01 June 2014 - 01 June 2014

Combined analysis of linkage and exome sequencing identifies a novel SYNE1 mutation in a consanguineous family from Turkey with a rare form of recessive cerebellar ataxia. European Human Genetics Conference 2014

Attendee

Milan-Italy

01 November 2012 - 01 November 2012

Genome-wide SNP analysis in a large consanguineous Turkish family reveals diagnosis as Unverricht-Lundborg Disease. American Society of Human Genetics 62nd Annual Meeting

Attendee

California-United States Of America

01 November 2012 - 01 November 2012

Identifying disease genes in a large highly inbred consanguineous kindred from Turkey with idiopathic generalized epilepsy. American Society of Human Genetics 62nd Annual Meeting

Attendee

California-United States Of America

01 June 2012 - 01 June 2012

Identification of a de novo splice-site mutation in SLC2A1 gene causing Glut1 deficiency syndrome in a Turkish patient. European Human Genetics Conference 2012

Attendee

Nuremberg-Germany

01 August 2011 - 01 August 2011

GENETIC ANALYSIS OF SLC2A1 GENE CODING GLUCOSE TRANSPORTER GLUT1 IN TURKISH IDIOPATHIC GENERALIZED EPILEPSY PATIENTS. 29th International Epilepsy Congress

Attendee

Rome-Italy

01 May 2011 - 01 May 2011

Whole genome linkage analysis in a large consanguineous Turkish family with idiopathic generalized epilepsy. European Human Genetics Conference 2011

Attendee

Amsterdam-Netherlands

01 October 2009 - 01 October 2009

Detection of copy number events in patients with eye development disorders using SNP arrays and multiple detection algorithms. American Society of Human Genetics 59th Annual Meeting

Attendee

Hawaii-United States Of America

01 June 2009 - 01 June 2009

The 94th annual Meeting of the Oxford Ophthalmological Congress: Identification of novel mutations in a lens specific transcription factor gene

Attendee

Oxford-United Kingdom

01 May 2009 - 01 May 2009

Sonic Hedgehog Mutations are an Uncommon Cause of Developmental Eye Anomalies. European Human Genetics Conference 2009

Attendee

Vienna-Austria

01 May 2007 - 01 May 2007

Linkage to 13q in a novel autosomal dominant pseudoarthrogryposis-like syndrome. European Human Genetics Conference 2007

Attendee

Nice-France

01 June 2006 - 01 June 2006

Mutations in a solute carrier gene are responsible for pulmonary alveolar and partly for testicular microlithiasis. 31st Congress of the Federation-of-European-Biochemical-Societies (FEBS) 2006.

Attendee

İstanbul-Turkey

01 May 2006 - 01 May 2006

An early-onset progressive encephalopathy with myoclonus and dystonia (PEMD) mapping to chromosome 16pter. European Human Genetics Conference 2006

Attendee

Amsterdam-Netherlands

01 May 2006 - 01 May 2006

Locus and gene analysis in a novel autosomal recessive leukodystrophy. European Human Genetics Conference 2006

Attendee

Amsterdam-Netherlands

Scholarships

2001 - 2006