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Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis.
Sherif M, Demirbilek H, Çayır A, Tahir S, Çavdarlı B, Demiral M, Cebeci AN, Vurallı D, Rahman SA, Unal E, Büyükyılmaz G, Baran RT, Özbek MN, Hussain K. Sherif M, et al. Among authors: cavdarli b. J Clin Res Pediatr Endocrinol. 2021 Feb 26;13(1):34-43. doi: 10.4274/jcrpe.galenos.2020.2020.0152. Epub 2020 Sep 17. J Clin Res Pediatr Endocrinol. 2021. PMID: 32938580 Free PMC article.
Clinical Characteristics and Genotype-Phenotype Correlation in the Patients with the Diagnosis of Resistance to Thyroid Hormone Beta.
Büyükyılmaz G, Çavdarlı B, Koca SB, Toksoy Adıgüzel K, Topaloğlu O, Aydın C, Hepsen S, Çakal E, Semerci Gündüz N, Boyraz M, Gürbüz F, Demirbilek H. Büyükyılmaz G, et al. Among authors: cavdarli b. J Clin Res Pediatr Endocrinol. 2024 Dec 23. doi: 10.4274/jcrpe.galenos.2024.2024-8-14. Online ahead of print. J Clin Res Pediatr Endocrinol. 2024. PMID: 39713907 Free article.
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations.
Gao F, Schon KR, Vandrovcova J, Wilson L, Hanna MG; ICGNMD Consortium; Çavdarlı B, Heckmann J, Chinnery PF, Horvath R. Gao F, et al. Among authors: cavdarli b. Ann Clin Transl Neurol. 2024 Aug 2. doi: 10.1002/acn3.52141. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 39095335 Free article.
47 results