Şahin Avcı

A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations

Aslı Derya Kardelen, Güven Toksoy, Firdevs Baş et al. · Journal of Clinical Research in Pediatric Endocrinology · 2018 · 37 citations · Full text

Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene

Firdevs Baş, Güven Toksoy, Berrin Ergun-Longmire et al. · The Journal of Steroid Biochemistry and Molecular Biology · 2018 · 32 citations

Cyp11b1 Gene, Mendelian Disorder, Genetic Disorder +10

Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey

Güven Toksoy, Dilek Uludağ Alkaya, Şahin Avcı et al. · Molecular Syndromology · 2020 · 27 citations · Full text

Prenatal Diagnosis and Management of Ectopia Cordis: Varied Presentation Spectrum

Gürcan Türkyılmaz, Şahin Avcı, Emircan Ertürk et al. · Fetal and Pediatric Pathology · 2019 · 14 citations

Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome

Tuğçe Aksu Uzunhan, Biray Ertürk, Kürşad Aydın et al. · Clinical Neurology and Neurosurgery · 2022 · 13 citations

Mendelian Disorder, Joubert Syndrome, Medicine +8