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The Journal of Steroid Biochemistry and Molecular Biology|April 8, 2018
Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 geneFirdevs Baş, Güven Toksoy, Berrin Ergun-Longmire, et al.Journal of Clinical Research in Pediatric Endocrinology|March 30, 2018
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 MutationsAslı Derya Kardelen, Güven Toksoy, Firdevs Baş, et al.European Journal of Human Genetics : EJHG|January 12, 2012
A large duplication involving the IHH locus mimics acrocallosal syndromeMemnune Yuksel-Apak, Nina Bögershausen, Barbara Pawlik, et al.Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|January 6, 2026
Molecular Diagnosis of 46,XY Disorders of Sex Development: An Efficient Initial Molecular Analysis Using a Custom-Designed Targeted Gene Panel in a Single-Center StudySukran Poyrazoglu, Agharza Aghayev, Guven Toksoy, et al.Frontiers in Genetics|June 28, 2023
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseasesAsuman Gedikbasi, Guven Toksoy, Meryem Karaca, et al.Journal of Clinical Research in Pediatric Endocrinology|June 20, 2023
PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone DeficiencyAslı Derya Kardelen, Adam Najafli, Firdevs Baş, et al.Molecular Syndromology|November 23, 2020
Clinical and Molecular Characterization of Fanconi Anemia Patients in TurkeyGüven Toksoy, Dilek Uludağ Alkaya, Gülendam Bagirova, et al.Clinical Genetics|January 26, 2024
Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contracturesGozde Tutku Turgut, Umut Altunoglu, Cagri Gulec, et al.Fetal Diagnosis and Therapy|February 12, 2024
Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis ImperfectaLeyli Senturk, Cagri Gulec, Tugba Sarac Sivrikoz, et al.EMBO Molecular Medicine|October 6, 2023
Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiationArjan F Theil, Alex Pines, Tuğba Kalayci, et al.Pageof 6