Articles
50
All (50)
SCI-E, SSCI, AHCI (49)
SCI-E, SSCI, AHCI, ESCI (50)
ESCI (1)
Scopus (50)
TRDizin (3)
9. Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
, vol.36, no.9, pp.1606-1611, 2022 (SCI-Expanded)
18. Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
, vol.116, no.4, pp.1347-1352, 2019 (SCI-Expanded)
28. ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice
Proceedings of the National Academy of Sciences of the United States of America
, vol.113, no.21, pp.5993-5998, 2016 (SCI-Expanded)
33. Analysis Of Hpse2 Gene Mutations In Children With Non-neurogenic Neurogenic Bladder And Urofacial (ochoa) Syndrome
PEDIATRIC NEPHROLOGY
, vol.29, no.9, pp.1698, 2014 (SCI-Expanded)
34. FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
, vol.111, no.27, pp.9864-9868, 2014 (SCI-Expanded)
35. Evidence for genotype-phenotype correlation for OTOF mutations
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
, vol.78, no.6, pp.950-953, 2014 (SCI-Expanded)
Papers Presented at Peer-Reviewed Scientific Conferences
25
3. Human Inner Ear Organoids Validate Coding and Enhancer Variants in Cochlear Malformations
ASHG 2024 Annual Meeting, Colorado, United States Of America, 5 - 09 November 2024, pp.1694-1695, (Summary Text)
4. Genetics of Hearing Loss : How close we are to GeneUnderstanding.
2nd Otocon 2024, Islamabad, Pakistan, 17 - 19 May 2024
10. Leigh Sendromu (LS) Ön Tanılı Bir Hastada Olası Genetik Etmenlerin Araştırılması
VI. Tıbbi Biyoloji ve Genetik Kongresi, Muğla, Turkey, 27 - 30 October 2019
11. işitme kaybının genetiği
V. Uluslararası Katılımlı Odyoloji Kongresi, Ankara, Turkey, 11 - 12 May 2019
13. A founder mutation uncovers MPZL2 (DFNB111) as a novel autosomal recessive non-syndromic moderate hearing loss gene
German Society of Human Genetics Meeting, 6 - 08 April 2019
15. İŞİTME KAYBI GENETİĞİ
Ankara Tıp Kulak Burun Boğaz Kliniği 4. Alumni Toplantısı, Turkey, 14 - 15 December 2018
16. Mitokondriyal kalıtım gösteren tanı konulamamış nadir nöroloji, psikiyatri, metabolizma hastalarında mitokondriyal DNA (mtDNA)’nın taranması
Uluslararası katılımlı 13. Ulusal Tıbbi Genetik Kongresi, Turkey, 7 - 11 November 2018, (Summary Text)
17. Association of TOMM40 (Rs1160985 and Rs157581) Polymorphisms with Alzehimer Disease
Uluslararası katılımlı 13. Ulusal Tıbbi Genetik Kongresi, Turkey, 7 - 11 November 2018, (Summary Text)
18. Three novel hearing loss genes reveal previously unrecognized roles of their protein products in the perception of sound.
American Society of Human Genetics 2018 Annual Meeting, San Diego, 16 - 20 October 2018, (Summary Text)
19. Sendromik olmayan işitme kayıplı Türk ailelerde sorumlu genlerin araştırılması
Pediatrik Odyoloji Kongresi, Ankara, Turkey, 5 - 07 February 2018, (Summary Text)
20. A recessive variant in forkhead box domain of FOXF2 is associated with profound hearing loss and inner ear anomaly
American Society of Human Genetics 2017 Annual Meeting, ORLANDO, United States Of America, 17 - 21 October 2017, (Summary Text)
21. Non Sendromik Ailesel İşitme Kayıplı Hastalarda Genetik Analiz
5. Ulusal Otoloji Nörootoloji Kongresi, Antalya, Turkey, 4 - 07 May 2017
22. Comprehensive Search for Deafness Genes Associated with Inner Ear Anomalies
American Society of Human Genetics 65th Annual Meeting, 6 - 10 October 2015, (Summary Text)
23. Tedavi Edilebilir Bir Otizm Nedeni Olarak BCKD-Kinaz Eksikliği: İki Olgu Sunumu
XIII. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Adana, Turkey, 14 - 18 April 2015
24. BCKD kinase deficiency Expanding the disease phenotypewith sensorineural hearing loss and transient acrodermatitisenteropathica like dermatitis
SSIEM 2014 Annual Symposium, Innsbruck, Austria, 2 - 05 September 2014, vol.37, pp.174
25. Frequency of renal anomalies in asymptomatic relatives of the patients with CAKUT
45th Annual Pediatric Nephrology Meeting, Krakow, Poland, 6 - 08 September 2012, vol.27, pp.1650
Books
3
1. İŞİTME KAYBI GENETİĞİ
in: MOLEKÜLER BİYOLOJİDE YENİ KONULAR, Taştan Hakkı, Editor, İksad Yayınevi, Ankara, pp.183-202, 2023
3. Genetik İşitme Kaybı
in: Temel Klinik Odyoloji, Bülent Gündüz, Editor, Pelikan, pp.477-500, 2022