Publications
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Author Title [ Year
] Filters: First Letter Of Last Name is O and Author is Okur, Volkan [Clear All Filters]
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. Eur J Hum Genet 27, 1081-1089 (2019).
Homozygous noncanonical splice variant in in two siblings with multiple congenital anomalies and global developmental delay. Cold Spring Harb Mol Case Stud 5, (2019).
A novel homozygous variant in results in a neurodevelopmental disorder and disrupts TRAPP complex function. J Med Genet (2020). doi:10.1136/jmedgenet-2020-107016
