Makaleler
50
Tümü (50)
SCI-E, SSCI, AHCI (49)
SCI-E, SSCI, AHCI, ESCI (50)
ESCI (1)
Scopus (50)
TRDizin (4)
9. Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
, cilt.36, sa.9, ss.1606-1611, 2022 (SCI-Expanded, Scopus)
10. Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice
Proceedings of the National Academy of Sciences of the United States of America
, cilt.119, sa.26, 2022 (SCI-Expanded, Scopus)
14. Adams–Oliver syndrome caused by mutations of the EOGT gene
American Journal of Medical Genetics, Part A
, cilt.179, sa.11, ss.2246-2251, 2019 (SCI-Expanded, Scopus)
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
, cilt.116, sa.4, ss.1347-1352, 2019 (SCI-Expanded, Scopus)
23. Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
, cilt.101, ss.167-171, 2017 (SCI-Expanded, Scopus)
24. Research of genetic bases of hereditary non-syndromic hearing loss
TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
, cilt.52, sa.3, ss.122-132, 2017 (ESCI, Scopus, TRDizin)
25. Novel EYA1 variants causing Branchio-oto-renal syndrome
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
, cilt.98, ss.59-63, 2017 (SCI-Expanded, Scopus)
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
, cilt.113, sa.21, ss.5993-5998, 2016 (SCI-Expanded, Scopus)
33. Analysis Of Hpse2 Gene Mutations In Children With Non-neurogenic Neurogenic Bladder And Urofacial (ochoa) Syndrome
PEDIATRIC NEPHROLOGY
, cilt.29, sa.9, ss.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
, cilt.111, sa.27, ss.9864-9868, 2014 (SCI-Expanded, Scopus)
35. Evidence for genotype-phenotype correlation for OTOF mutations
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
, cilt.78, sa.6, ss.950-953, 2014 (SCI-Expanded, Scopus)
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler
25
3. Human Inner Ear Organoids Validate Coding and Enhancer Variants in Cochlear Malformations
ASHG 2024 Annual Meeting, Colorado, Amerika Birleşik Devletleri, 5 - 09 Kasım 2024, ss.1694-1695, (Özet Bildiri)
4. Genetics of Hearing Loss : How close we are to GeneUnderstanding.
2nd Otocon 2024, Islamabad, Pakistan, 17 - 19 Mayıs 2024
10. Leigh Sendromu (LS) Ön Tanılı Bir Hastada Olası Genetik Etmenlerin Araştırılması
VI. Tıbbi Biyoloji ve Genetik Kongresi, Muğla, Türkiye, 27 - 30 Ekim 2019
11. işitme kaybının genetiği
V. Uluslararası Katılımlı Odyoloji Kongresi, Ankara, Türkiye, 11 - 12 Mayıs 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 Nisan 2019
15. İŞİTME KAYBI GENETİĞİ
Ankara Tıp Kulak Burun Boğaz Kliniği 4. Alumni Toplantısı, Türkiye, 14 - 15 Aralık 2018
16. Mitokondriyal kalıtım gösteren tanı konulamamış nadir nöroloji, psikiyatri, metabolizma hastalarında mitokondriyal DNA (mtDNA)’nın taranması
Uluslararası katılımlı 13. Ulusal Tıbbi Genetik Kongresi, Türkiye, 7 - 11 Kasım 2018, (Özet Bildiri)
17. Association of TOMM40 (Rs1160985 and Rs157581) Polymorphisms with Alzehimer Disease
Uluslararası katılımlı 13. Ulusal Tıbbi Genetik Kongresi, Türkiye, 7 - 11 Kasım 2018, (Özet Bildiri)
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 Ekim 2018, (Özet Bildiri)
19. Sendromik olmayan işitme kayıplı Türk ailelerde sorumlu genlerin araştırılması
Pediatrik Odyoloji Kongresi, Ankara, Türkiye, 5 - 07 Şubat 2018, (Özet Bildiri)
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, Amerika Birleşik Devletleri, 17 - 21 Ekim 2017, (Özet Bildiri)
21. Non Sendromik Ailesel İşitme Kayıplı Hastalarda Genetik Analiz
5. Ulusal Otoloji Nörootoloji Kongresi, Antalya, Türkiye, 4 - 07 Mayıs 2017
22. Comprehensive Search for Deafness Genes Associated with Inner Ear Anomalies
American Society of Human Genetics 65th Annual Meeting, 6 - 10 Ekim 2015, (Özet Bildiri)
23. Tedavi Edilebilir Bir Otizm Nedeni Olarak BCKD-Kinaz Eksikliği: İki Olgu Sunumu
XIII. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Adana, Türkiye, 14 - 18 Nisan 2015
24. BCKD kinase deficiency Expanding the disease phenotypewith sensorineural hearing loss and transient acrodermatitisenteropathica like dermatitis
SSIEM 2014 Annual Symposium, Innsbruck, Avusturya, 2 - 05 Eylül 2014, cilt.37, ss.174
25. Frequency of renal anomalies in asymptomatic relatives of the patients with CAKUT
45th Annual Pediatric Nephrology Meeting, Krakow, Polonya, 6 - 08 Eylül 2012, cilt.27, ss.1650
Kitaplar
3
1. İŞİTME KAYBI GENETİĞİ
MOLEKÜLER BİYOLOJİDE YENİ KONULAR, Taştan Hakkı, Editör, İksad Yayınevi, Ankara, ss.183-202, 2023
3. Genetik İşitme Kaybı
Temel Klinik Odyoloji, Bülent Gündüz, Editör, Pelikan, ss.477-500, 2022