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Journal of Pediatric Genetics|August 11, 2017
First Report of Two Rare Entities in a Family: 49,XXXXY and 45,XYavuz Şahin, Aysegül ÖzcanBrain & Development|November 22, 2021
A case with congenital disorder of glycosylation with defective fucosylation 2 and new mutation in FUK geneNezir Özgün, Yavuz ŞahinTurkish Journal of Urology|September 2, 2017
DiGeorge Syndrome Associated with Azoospermia: First case in the literatureAyşegül Özcan, Yavuz ŞahinThe Turkish Journal of Pediatrics|August 27, 2021
Whole exome sequencing identifies a novel variant in ABCA3 in an individual with fatal congenital surfactant protein deficiencyHayrunnisa Bekis Bozkurt, Yavuz ŞahinClinical Neurology and Neurosurgery|November 10, 2022
Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entityCengiz Dilber, Gül Yücel, Yavuz ŞahinAmerican Journal of Medical Genetics. Part A|February 9, 2023
Eighth case of Li-Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotypeMasoud Edizadeh, Hande Kaymakcalan, Saeed Farajzadeh Valilou, et al.Journal of Endodontics|September 14, 2019
Histologic Evaluation of Regenerated Tissues in the Pulp Spaces of Teeth with Mature Roots at the Time of the Regenerative Endodontic ProceduresHakan Arslan, Yavuz Şahin, Hüseyin Sinan Topçuoğlu, et al.Journal of the Turkish German Gynecological Association|March 13, 2025
Evaluation of TNP1 and PRM1 gene expression in male infertility patients with low or high sperm DNA fragmentationYavuz Şahin, Elif Sibel Aslan, Süleyman Aktuna, et al.Brain & Development|April 28, 2016
A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)Olcay Güngör, Ahmet Kağan Özkaya, Yavuz Şahin, et al.The Turkish Journal of Pediatrics|December 5, 2018
Arrhythmia in thiamine responsive megaloblastic anemia syndromeMustafa Argun, Ali Baykan, Nihal Hatipoğlu, et al.Pageof 2