Prof. Dr. Hülya KAYSERİLİ KARABEY | AVESİS

Akademik Veri Yönetim Sistemi

Yayınlar & Eserler

Makaleler 41

1. SENDROMİK VE NON-SENDROMİK KRANİYOSİNOSTOZ OLGULARINDA FGFR1-3, TWIST1, MSX2, POR, FREM1 VE RAB23 GENLERİNİN MOLEKÜLER ANALİZİ

Karaman V., TOKSOY G., KARAMAN B., KAYSERİLİ KARABEY H., BAŞARAN S., ALTUNOĞLU U., et al.

İSTANBUL TIP FAKÜLTESİ DERGİSİ , cilt.82, sa.2, ss.9-10, 2019 (Hakemli Dergi)

2. Clinicogenetic Study of Turkish Patients With Syndromic Craniosynostosis and Literature Review

NUR B., Pehlivanoglu S., MIHÇI E., Caliskan M., Demir D., ALPER Ö., et al.

PEDIATRIC NEUROLOGY , cilt.50, sa.5, ss.482-490, 2014 (SCI-Expanded)

3. Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation

Guven Y., Altunoglu U., Aktoren O., Uyguner Z. O., Kayserili H., Kaewkahya M., et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.57, sa.5, ss.240-246, 2014 (SCI-Expanded)

4. A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome

Czeschik J. C., Albrecht B., Kayserili H., Kuechler A., Wagner N., Wieczorek D., et al.

CLINICAL DYSMORPHOLOGY , cilt.23, sa.2, ss.67-70, 2014 (SCI-Expanded)

5. Newly Described Clinical Features in Two Siblings With MACS Syndrome and a Novel Mutation in RIN2

Aslanger A. D., Altunoglu U., Aslanger E., Satkin B. N., Uyguner Z. O., Kayserili H.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.164, sa.2, ss.484-489, 2014 (SCI-Expanded)

6. Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Novarino G., Fenstermaker A. G., Zaki M. S., Hofree M., Silhavy J. L., Heiberg A. D., et al.

SCIENCE , cilt.343, sa.6170, ss.506-511, 2014 (SCI-Expanded)

7. Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

Murray J. E., Bicknell L. S., Yigit G., Duker A. L., van Kogelenberg M., Haghayegh S., et al.

HUMAN MUTATION , cilt.35, sa.1, ss.76-85, 2014 (SCI-Expanded) Sürdürülebilir Kalkınma

Sürdürülebilir Kalkınma

8. The genetic basis of DOORS syndrome: an exome-sequencing study

Campeau P. M., Kasperaviciute D., Lu J. T., Burrage L. C., Kim C., Hori M., et al.

LANCET NEUROLOGY , cilt.13, sa.1, ss.44-58, 2014 (SCI-Expanded)

9. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Wieczorek D., Boegershausen N., Beleggia F., Steiner-Haldenstaett S., Pohl E., Li Y., et al.

HUMAN MOLECULAR GENETICS , cilt.22, sa.25, ss.5121-5135, 2013 (SCI-Expanded)

10. Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

Halbritter J., Bizet A. A., Schmidts M., Porath J. D., Braun D. A., Gee H. Y., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.93, sa.5, ss.915-925, 2013 (SCI-Expanded) Sürdürülebilir Kalkınma

Sürdürülebilir Kalkınma

11. Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

Dimopoulou A., Fischer B., Gardeitchik T., Schroeter P., Kayserili H., Schlack C., et al.

MOLECULAR GENETICS AND METABOLISM , cilt.110, sa.3, ss.352-361, 2013 (SCI-Expanded)

12. Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations

Iida A., Iida A., Simsek-Kiper P. O., Simsek-Kiper P. O., Mizumoto S., Mizumoto S., et al.

HUMAN MUTATION , cilt.34, sa.10, ss.1381-1386, 2013 (SCI-Expanded)

13. Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

Symoens S., Malfait F., D'hondt S., Callewaert B., Dheedene A., Steyaert W., et al.

ORPHANET JOURNAL OF RARE DISEASES , cilt.8, 2013 (SCI-Expanded)

14. Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

Czeschik J. C., Voigt C., ALANAY Y., Albrecht B., Avci S., FitzPatrick D., et al.

HUMAN GENETICS , cilt.132, sa.8, ss.885-898, 2013 (SCI-Expanded)

15. Mutations in WNT1 cause different forms of bone fragility.

KEUPP K., BELEGGIA F., KAYSERILI H., BARNES A., STEINER M., SEMLER O., et al.

American journal of human genetics , cilt.92, ss.565-74, 2013 (SCI-Expanded)

16. Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

Novarino G., El-Fishawy P., Kayserili H., Meguid N. A., Scott E. M., Schroth J., et al.

SCIENCE , cilt.338, sa.6105, ss.394-397, 2012 (SCI-Expanded)

17. Down Syndrome Diagnosis Based on Gabor Wavelet Transform

Saraydemir S., TAŞPINAR N., Erogul O., Kayserili H., Dinckan N.

JOURNAL OF MEDICAL SYSTEMS , cilt.36, sa.5, ss.3205-3213, 2012 (SCI-Expanded)

18. A large duplication involving the IHH locus mimics acrocallosal syndrome

Yuksel-Apak M., Boegershausen N., Pawlik B., Li Y., Apak S., Uyguner O., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.20, sa.6, ss.639-644, 2012 (SCI-Expanded) Sürdürülebilir Kalkınma

Sürdürülebilir Kalkınma

19. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Hucthagowder V., Morava E., Kornak U., Lefeber D. J., Fischer B., Dimopoulou A., et al.

HUMAN MOLECULAR GENETICS , cilt.18, sa.12, ss.2149-2165, 2009 (SCI-Expanded)

20. Türk Noonan Sendromlu Hastalarda Genotip Fenotip İlişkisi

Altunoğlu U., Denmeyer E., Rosti R. Ö., KARAMAN B., KAYSERİLİ H.

TÜRKİYE KLİNİKLERİ PEDİATRİ DERGİSİ , cilt.18, sa.3, ss.174-80, 2009 (Scopus)

21. Mandibuloakral displazi: Vaka sunumu ve laminopatilere genel bakış

Pehlivan D., BAŞ F., Rosti R. Ö., DARENDELİLER F. F., KAYSERİLİ H.

ÇOCUK DERGİSİ , cilt.8, sa.4, ss.251-256, 2008 (Hakemli Dergi)

22. Angelman syndrome: clinical findings and follow-up data of 14 patients

Kara B., Karaman B., Ozmen M., Rosti R. O., Caliskan M., Kayserili H., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.50, sa.2, ss.137-142, 2008 (SCI-Expanded)

23. CYP21 gene mutations in congenital adrenal hyperplasia: Genotype-phenotype correlation in Turkish children

Bas F., Darendeliler F. F., Kayserili H., Uyguner O., Wollnik B., Saka N., et al.

HORMONE RESEARCH , cilt.70, ss.156-157, 2008 (SCI-Expanded)

24. Frajil-X Sendromu Tanısında 20 Yıllık Süreçteki Gelişmeler ve Deneyimlerimiz

KAYSERİLİ H., Tükel T., KARAMAN B., UYGUNER Z. O., Rosti R. Ö., Açarsöz D., et al.

Çocuk Kliniği ANADOLU KARDIYOLOJI DERGISI-THE ANATOLIAN JOURNAL OF CARDIOLOGY , cilt.7, ss.18-22, 2007 (Hakemli Dergi)

25. Down Sendromlu 1416 Postnatal Olgunun Kromozom Analiz Sonuçları

KARAMAN B., Öztürk H., Yılmaz K., BAŞARAN S., KAYSERİLİ H., Yüksel Apak M.

Çocuk Kliniği Dergisi , cilt.7, ss.15-17, 2007 (Hakemli Dergi)

26. Gebelikte trizomi 21 ve 18 için biokimyasal tarama testleri

BAŞARAN S., KARAMAN B., Öztürk H., Yılmaz K., Tükel T., KAYSERİLİ H., et al.

Çocuk Kliniği Dergisi , cilt.7, ss.10-14, 2007 (Hakemli Dergi)

27. 18q deletion syndrome associated with autoimmune thyroid disease presenting as hyperthyroidism

Tütüncüler F., Darendeliler F. F., Günöz H., Karaman B., Kayserili H.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.18, sa.4, ss.419-420, 2005 (SCI-Expanded)

28. Gender assignment in female congenital adrenal hyperplasia: a difficult experience

Ozbey H., Darendeliler F. F., Kayserili H., Korkmazlar U., Salman T.

BJU INTERNATIONAL , cilt.94, sa.3, ss.388-391, 2004 (SCI-Expanded)

29. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2)

Revy P., Muto T., Levy Y., Geissmann F., Plebani A., Sanal O., et al.

CELL , cilt.102, sa.5, ss.565-575, 2000 (SCI-Expanded)

30. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

van Bokhoven H., Celli J., Kayserili H., van Beusekom E., Balci S., Brussel W., et al.

NATURE GENETICS , cilt.25, sa.4, ss.423-426, 2000 (SCI-Expanded)

31. Kuşkulu genitalyalı 103 hastanın etyoloji, tanı ve cinsel kimlik açısından değerlendirilmesi

DARENDELİLER F. F., BAŞ F., Saka H. N., KAYSERİLİ H., Apak M., Karaaslan N., et al.

KLİNİK GELİŞİM , cilt.13, ss.109-114, 2000 (Hakemli Dergi)

32. Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation

Nuytinck L., Tukel T., Kayserili H., Apak M., De Paepe A.

JOURNAL OF MEDICAL GENETICS , cilt.37, sa.5, ss.371-375, 2000 (SCI-Expanded)

33. Screening of deletions in SMN, NAIP and BTF2p44 genes in Turkish spinal muscular atrophy patients

Savas S., Gokgoz N., Kayserili H., Ozkinay F., Yuksel-Apak M., Kirdar B.

HUMAN HEREDITY , cilt.50, sa.3, ss.162-165, 2000 (SCI-Expanded)

34. A rare mutation [IVS-I-130 (G-A)] in a Turkish beta-thalassemia major patient

Tadmouri G., Bilenoglu O., Kantarci S., Kayserili H., Perrin P., Basak A.

AMERICAN JOURNAL OF HEMATOLOGY , cilt.63, sa.4, ss.223-225, 2000 (SCI-Expanded)

35. 17 beta-hydroxysteroid dehydrogenase-3 deficiency: Diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations

Boehmer A., Brinkmann A., Sandkuijl L., Halley D., Niermeijer M., Andersson S., et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM , cilt.84, sa.12, ss.4713-4721, 1999 (SCI-Expanded)

36. Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA)

ERASLAN S., Kayserili H., Apak M., KIRDAR B.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.7, sa.7, ss.765-770, 1999 (SCI-Expanded)

37. Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency

Van Kuilenburg A., Vreken P., Abeling N., Bakker H., Meinsma R., Van Lenthe H., et al.

HUMAN GENETICS , cilt.104, sa.1, ss.1-9, 1999 (SCI-Expanded)

38. Genetik Hastalıkların Prenatal Tanısı, 1995–1997 yıllarındaki uygulama ve araştırmalarımızın sonuçları

Yüksel Apak M., BAŞARAN S., Aydınlı K., KAYSERİLİ H., KARAMAN B., Açarsöz D., et al.

İst. Tıp Fakültesi Mecmuası , cilt.62, sa.4, ss.354-362, 1999 (Hakemli Dergi)

39. Seven cases of Wiedemann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11

Dutly F., Baumer A., Kayserili H., Yuksel-Apak M., Zerova T., Hebisch G., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS , cilt.79, sa.5, ss.347-353, 1998 (SCI-Expanded)

40. Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I)

ONAY T., TOPALOĞLU Ö., ZIELENSKI J., GÖKGÖZ N., Kayserili H., Camcioglu Y., et al.

HUMAN GENETICS , cilt.102, sa.2, ss.224-230, 1998 (SCI-Expanded)

41. Duchenne Kas Distrofisi İçin Riskli Ailelerde Taşıyıcılığın Belirlenmesi ve Prenatal Tanı Uygulamalarında Karşılaşılan Sorunlar

KAYSERİLİ H., Açarsöz D., Gökgöz N., BAŞARAN S., KARAMAN B., Kırdar B., et al.

İstanbul Çocuk Kliniği Dergisi , cilt.30, ss.200-206, 1995 (Hakemli Dergi)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 31

1. The Application of array CGH for Monogenic Disorders; Clinical and Molecular Cytogenetic Characterization of Twenty Patients.

KARAMAN B., NAJAFLı A., Toksoy G., KAYSERİLİ KARABEY H., BAŞARAN S.

European Cytogenetic Conference, Floransa, İtalya, 29 Haziran - 02 Temmuz 2017, ss.8, (Tam Metin Bildiri)

2. Familial Microdeletion of 3 Mb at 22q11.2 With Unusual Phenotype

Toksoy G., Satkın B. N., KAYSERİLİ H., KARAMAN B., BAŞARAN S.

European Cytogenetic Conference, İrlanda, 1 - 04 Haziran 2013, ss.69, (Tam Metin Bildiri)

3. Molecular Test Results of Syndromic Craniosynostosis Patients:genotype-phenotype correlations

Karaman V., Altunoğlu U., Toksoy G., KARAMAN B., KAYSERİLİ H., UYGUNER Z. O.

European Human Genetic Congress, Fransa, 1 - 04 Haziran 2013, ss.99, (Tam Metin Bildiri)

4. Array-CGH Findings of de novo Apparently Balanced Chromosomal Rearrangements in Phenotypically Affected 20 Cases

KARAMAN B., Satkın B. N., KAYSERİLİ H., BAŞARAN S.

European Cytogenetic Conference, İrlanda, ss.122, (Tam Metin Bildiri)

5. A novel molecular and functional mechanism predisposing to ototoxicity

American Society of Human Genetics 62nd Annual Meeting, Amerika Birleşik Devletleri, 1 - 04 Ekim 2012, ss.10-15, (Tam Metin Bildiri)

6. Konjenital Eritropoietik Porfiride Eritrodonti:Bir Olgu Raporu

AKTÖREN O., KAYSERİLİ H., GÜVEN Y.

19.Türk Pedodonti Derneği Kongresi, Antalya, Türkiye, 1 - 04 Ekim 2012, ss.163, (Özet Bildiri)

7. Next generation sequencing detects mutations in ISPD as a common cause of Walker-Warburg syndrome with defective glycosylation of adystroglycan

American Society of Human Genetics 62nd Annual Meeting, Amerika Birleşik Devletleri, 1 - 04 Ekim 2012, ss.48-9

8. DYNC2H1 mutations are commonly found in Juene Asphyxating Thoracic Dyspilasia (JATD) without extraskeletal features while IFT140 mutations cause JATD with renal involvement

American Society of Human Genetics 62nd Annual Meeting, Amerika Birleşik Devletleri, 1 - 04 Ekim 2012, ss.23-24

9. Continuun from monogenic to polygenic and multifactorial disease

P4 Predictive Preventive Personalized Participatory Mediicine Meeting, Türkiye, 1 - 04 Eylül 2012, ss.3-6, (Tam Metin Bildiri)

10. Further molevular characterization of PYCR1-related cutis laxa

European Human Genetics Conferance, Almanya, 1 - 04 Haziran 2012, ss.60-61, (Tam Metin Bildiri)

11. Increased sensitivity to DNA damage in a recessive form of Weawer syndrome caused by functional loss of an E3 ubiquitin ligase

European Human genetics Conference 2012, Almanya, 1 - 04 Haziran 2012, ss.3-5, (Tam Metin Bildiri)

12. Mutation in RIPK4 that encodes Receptor-Interacting Serine/Threonine Kinase Protein 4 couse the autosomal recessive form of popliteal ptertgium syndrome

European Human Genetics Conferance, Almanya, 1 - 04 Haziran 2012, ss.45-46, (Tam Metin Bildiri)

13. Novel c.1731delC mutation in RIN2 gene in two Turkish siblings with MACS/RIN2 syndrome

European Human Genetics Conference, Almanya, 1 - 04 Haziran 2012, ss.57-58, (Tam Metin Bildiri)

14. Indications for Fetal Karyotyping and Ultrasonographic Findings in Common Trisomies; Alterations in over 2 Decades

Başaran S., Karaman B., Aytan M., Toksoy G., Kalelioğlu İ. H., Has R., et al.

European Human Genetics Congress 2012, Nuremberg, Almanya, 23 - 26 Haziran 2012, ss.147-148, (Özet Bildiri)

15. Chromosomal Imbalances in Holoprosencephaly Sequence; Results of 87 Cases Diagnosed Prenatally

KARAMAN B., Satkın B. N., Kalelioğlu İ. H., HAS R., KAYSERİLİ H., Ermiş H., et al.

European Human Genetic Congress, Almanya, ss.148-149, (Tam Metin Bildiri)

16. The Efficiency Of Multiplex Ligation-Dependent Probe AmplificationTechnique In The Diagnosis Of Fetal Chromosomal Abnormalities

Toksoy G., Karaman B., Uyguner Z. O., Yılmaz K., Has R., Kayserili H., et al.

European Human Genetics Conference 2012, Nuremberg, Almanya, 23 - 26 Haziran 2012, ss.150, (Özet Bildiri)

17. Array-CGH results in fetuses with central nervous system

Ergin S., KARAMAN B., Satkın B. N., Kalelioğlu İ. H., KAYSERİLİ H., YÜKSEL A., et al.

European Human Genetic Congress, Almanya, ss.144, (Tam Metin Bildiri)

18. How toapproach lissencephaly/subcortical band heterotopia spectrum.

Aslanger A. D., Toksoy G., Kayserili Karabey H., Karaman B., Başaran S., Uyguner Z. O.

9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, İstanbul, Türkiye, 1 - 05 Aralık 2010, cilt.78, ss.13, (Tam Metin Bildiri)

19. CLINICAL AND ULTRASONOGRAPHIC FINDINGS OF FETUSES WITH TRISOMY 21, 18 AND 13 CASES DIAGNOSED PRENATALLY IN AMNIOTIC FLUID SAMPLES. FROM JANUARY 1989 TO JULY 2010, 142 TRISOMY 21, 39 TRISOMY 18, 12 TRISOMY 13 CASES WERE DIAGNOSED IN AMNIOTIC FLUID SAMPLES

Satkın B. N., Kalelioğlu İ. H., KARAMAN B., HAS R., KAYSERİLİ H., Aydınlı K., et al.

Tıbbi Genetik Kongresi, İstanbul, Türkiye, ss.104-105, (Tam Metin Bildiri)

20. Novel P.D419Y Mutation in SH3P2 Gene Cause Cherubism in a Turkish Family.

AKTÖREN O., KAYSERİLİ H., GÜVEN Y.

9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, İstanbul, Türkiye, 1 - 04 Aralık 2010, ss.18-19, (Özet Bildiri)

21. A novel molecular and functional mechanism predisposing to ototoxicity

Pohl E., Offenhauser N., Kersten F., Üzümcü A., Yun L., KAYSERİLİ H., et al.

European Human Genetic Congress, Almanya, 1 - 04 Mayıs 2010, ss.5, (Tam Metin Bildiri)

22. Girl with left hemiatrophy reveals confined mosaicisms for r(13)in fibroblasts

Altunoğlu U., KARAMAN B., BAŞARAN S., KAYSERİLİ H.

European Human Genetic Congress, Avusturya, ss.125, (Tam Metin Bildiri)

23. Investigation of CYFIP1 and CYFIP2 genes in patients with autosomal recessive non-syndromic mental retardation

Güven G., KAYSERİLİ H., Üzümcü A., Eriş H., KARAMAN B., BAŞARAN S., et al.

European Human Genetics, İspanya, ss.271, (Tam Metin Bildiri)

24. Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method

Semerci C. N., Tufan Şatıroğlu L., Bereket A., TÜYSÜZ B., Yılmaz E., KAYSERİLİ H., et al.

European Cytogenetic Conference, Türkiye, 1 - 04 Temmuz 2007, ss.125, (Tam Metin Bildiri)

25. Dicentric chromosome 22 causing partial trisomy of 22q10Yq13 in a child with Cat Eye syndrome phenotype

Demir Z., KARAMAN B., KAYSERİLİ H., Yüksel Apak M., BAŞARAN S.

European Cytogenetic Conference, Türkiye, ss.61, (Tam Metin Bildiri)

26. A case of monosomy 8p23.3Yter and trisomy 16p13.3Yter; cytogenetic, molecular cytogenetic and clinical findings

Candan Ş., KARAMAN B., KAYSERİLİ H., Kırmızı N., BAŞARAN S.

European Cytogenetic Conference, Türkiye, ss.96, (Tam Metin Bildiri)

27. Orodental findings of lacrimo-auriculo-dento-digital(LADD) syndrome

GÜVEN Y., Rosti R. Ö., TUNA İNCE E. B., KAYSERİLİ H., AKTÖREN O.

12th. Congress of the Balkan Stomatological Society (BASS), Türkiye, ss.143-144, (Tam Metin Bildiri)

28. Identification of parental origins and delineation of structural abnormalities involving chromosome 9

Uzumcu A., Ghanbari A., Karaman B., Uyguner Z. O., Kayserili H., Wollnik B., et al.

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.261, (Özet Bildiri)

29. Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method

Semerci C. N., Satiroglu-Tufan N. L., Turan S., Bereket A., Tuysuz B., Yilmaz E., et al.

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.125-126, (Özet Bildiri)

30. Notch3 mutations in two Turkish families with CADASIL syndrome

SİVA A., Altintas A., SAİP S., UYGUNER Z. O., Kayserili H., Eskazan E., et al.

56th Annual Meeting of the American-Academy-of-Neurology, San-Francisco, Kostarika, 24 Nisan - 01 Mayıs 2004, cilt.62, (Özet Bildiri)

31. Cockayne Sendromu: 2 Olgu Bildirimi

PINAR ERDEM A., ÜSTÜN A., SEPET E., KAYSERİLİ H.

Türk Pedodonti Derneği 13. Ulusal Kongresi, Muğla, Türkiye, ss.29, (Tam Metin Bildiri)

Kitaplar 3

1. Tıbbi Genetik

KAYSERİLİ H., BAŞARAN S., KARAMAN B., UYGUNER Z. O.

Pediatride Rutinler, ömer devecioğlu, Editör, İstanbul Tıp Kitabevi, İstanbul, ss.300-305, 2014

2. Konjenital Adrenal Hiperplazi; Moleküler Tanı, Fenotip/Genotip Korelasyonu ve Antenatal İzlem Deneyimlerimiz (1990-2009).

Kayserili H., Uyguner Z. O., Karaman B., Başaran S.

Endokrinoloji Diyabet Yıllığı, Yarman S,Alagöl F., Editör, İstanbul Tıp Fakültesi, İstanbul, ss.103-113, 2012 Sürdürülebilir Kalkınma

Sürdürülebilir Kalkınma

3. Ekstremite Anomalileri

KALELİOĞLU İ. H., YAŞA C., KAYSERİLİ KARABEY H.

Obstetrik ve Jinekolojide Ultrason, Özden S, Editör, Doğan Tıb Kitabevi, İstanbul, ss.336-358, 2009

Metrikler

Yayın

75

Yayın (WoS)

35

Yayın (Scopus)

32

Atıf (WoS)

2832

H-İndeks (WoS)

18

Atıf (Scopus)

2911

H-İndeks (Scopus)

18

Atıf (Scholar)

52

H-İndeks (Scholar)

3

Proje

16

BM Sürdürülebilir Kalkınma Amaçları