Makaleler
34
Tümü (34)
SCI-E, SSCI, AHCI (25)
SCI-E, SSCI, AHCI, ESCI (29)
ESCI (4)
Scopus (30)
TRDizin (9)
6. Novel variants ensued genomic imprinting in familial central precocious puberty
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
, cilt.47, sa.8, ss.2041-2052, 2024 (SCI-Expanded, Scopus)
14. CLINICAL AND MOLECULAR RESULTS OF SIX CASES WITH ROBERTS SYNDROME: REVIEW OF CASES FROM TURKIYE
JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
, cilt.85, sa.4, ss.501-510, 2022 (Scopus)
15. Evaluation of Genetic Etiology in Children Born Small for Gestational Age with Persistent Short Stature: Preliminary Results
HORMONE RESEARCH IN PAEDIATRICS
, sa.SUPPL 2, ss.313, 2022 (SCI-Expanded)
16. Investigation of Genes Associated with Multiple Pituitary Hormone Deficiencies via Next Generation Sequencing Technology
HORMONE RESEARCH IN PAEDIATRICS
, sa.SUPPL 2, ss.91-92, 2022 (SCI-Expanded)
17. Evaluation of Early Puberty in Patients with MC2R Deficiency
HORMONE RESEARCH IN PAEDIATRICS
, sa.SUPPL 2, ss.354, 2022 (SCI-Expanded, Scopus)
19. A cause of familial central precocious puberty: A Novel variant in the DLK1 gene and low serum DLK1 levels
HORMONE RESEARCH IN PAEDIATRICS
, sa.SUPPL 2, ss.351, 2022 (SCI-Expanded)
21. Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD.
Journal of clinical research in pediatric endocrinology
, cilt.14, sa.2, ss.153-171, 2022 (SCI-Expanded)
22. Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
, cilt.14, sa.2, ss.153-171, 2022 (SCI-Expanded, Scopus, TRDizin)
24. Sequence of MKRN3 and DLK1 genes in cases with familial central precocious puberty
HORMONE RESEARCH IN PAEDIATRICS
, sa.SUPPL 1, ss.167-168, 2021 (SCI-Expanded)
25. Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, cilt.185, sa.8, ss.2488-2495, 2021 (SCI-Expanded, Scopus)
28. Two cases with central precocious puberty caused by paternally inherited novel variants in DLK1gene
EUROPEAN JOURNAL OF HUMAN GENETICS
, sa.SUPPL 1, ss.213, 2020 (SCI-Expanded)
30. SENDROMİK VE NON-SENDROMİK KRANİYOSİNOSTOZ OLGULARINDA FGFR1-3, TWIST1, MSX2, POR, FREM1 VE RAB23 GENLERİNİN MOLEKÜLER ANALİZİ
İSTANBUL TIP FAKÜLTESİ DERGİSİ
, cilt.82, sa.2, ss.9-10, 2019 (Hakemli Dergi)
32. Idiopathic angioedema with F12 mutation: is it a new entity?
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology
, cilt.114, sa.2, ss.154-6, 2015 (SCI-Expanded, Scopus)
34. Novel NLRP7 mutations in familial recurrent hydatidiform mole: are NLRP7 mutations a risk for recurrent reproductive wastage?
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY
, cilt.170, sa.1, ss.188-192, 2013 (SCI-Expanded, Scopus)
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler
43
4. Pubertal Virilizasyon ile Prezente Olan Bir Olguda NR5A1 Gen Delesyonuna Bağlı 46,XY Cinsiyet Gelişim Farklılığı
Bayrak Demirel Ö., Yola Atalah Y. E., Sharıfova Mırzayev S., Aslanger A. D., Karaman V., Kardelen Al A. D., et al.
12. Çocuk Endokrinolojisi Olgu Sunumları Sempozyumu, Ankara, Türkiye, 2 - 03 Kasım 2024, ss.50, (Özet Bildiri)
6. Evaluation of metabolic syndrome risk using metabolic syndrome z-score in Bardet-Biedl Syndrome patients with various genotypes
62nd Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Liverpool, İngiltere, 16 - 18 Kasım 2024, ss.385, (Özet Bildiri)
8. Aarskog syndrome: Expanding the phenotypic and molecular spectrum through a new case series including two adult patients (POSTER ID EP13.093)
European Society of Human Genetics 2024 Congress, Berlin, Almanya, 1 - 04 Haziran 2024, (Özet Bildiri)
9. Identification of genetic etiology in 130 patients with congenital hypopituitarism (POSTER ID P05.050.B)
European of Society of Human Genetics Congress 2024, Berlin, Almanya, 01 Haziran 2024, (Özet Bildiri)
13. NADIR RASTLANILAN BARDET BIEDL SENDROMU TANILI OLGULARIN GENETIK, ENDOKRINOLOJIK VE METABOLIK ÖZELLIKLERI
Kandemir T., Tercan U., Bayrak Demirel Ö., Yıldırım B. T., Kardelen Al A. D., Aslanger A. D., et al.
XXVIII. ULUSAL PEDİATRİK ENDOKRİNOLOJİ VE DİYABET KONGRESİ, Girne, Kıbrıs (Kktc), 2 - 05 Mayıs 2024, ss.200-201, (Özet Bildiri)
21. Gebelik Haftasına Göre Küçük Doğan (Sga) Çocuklarda Sebat Eden Boy Kısalığının Etiyolojisinin Genetik Analizler Ile Değerlendirilmesi
15.ULUSLARARASI KATILIMLI, ULUSAL TIBBİ GENETİK KONGRESİ, Muğla, Türkiye, 9 - 13 Kasım 2022, ss.189, (Özet Bildiri)
24. Çoğul Hipofiz Hormon Eksikliklerinde İlişkili Genlerin Yeni Nesil Dizileme Teknolojisi İle Araştırılması
XXV. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, Türkiye, 06 Ekim 2021, (Özet Bildiri)
30. Analysis of RUNX2mutations in four Turkish patients with Cleidocranial Dysplasia
ESHG-2018, 16 - 19 Haziran 2018, (Özet Bildiri)
32. HBB gene mutation spectrum of beta-thalasemia patients from Turkey
European Human Genetics Conference 2014, Milan, İtalya, 31 Mayıs - 03 Haziran 2014, cilt.22, sa.1, ss.140, (Özet Bildiri)
34. Tip III Herediter Anjiödem Hastalarının Klinik ve Genetik Özelliklerinin Analizi
XX. Ulusal Allerji ve Klinik immunoloji Kongresi, Antalya, Türkiye, 2 - 06 Kasım 2013, ss.51, (Tam Metin Bildiri)
37. Molecular Test Results of Syndromic Craniosynostosis Patients:genotype-phenotype correlations
European Human Genetic Congress, Fransa, 1 - 04 Haziran 2013, ss.99, (Tam Metin Bildiri)
42. KIR Gene Diversty in Turkish population
20th European Immunogenetic and Histocompatibility Conference, 8 - 11 Haziran 2006, (Özet Bildiri)