Publications
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[ Author] Title Year Filters: Author is Çağlayan, Ahmet Okay and Keyword is Female [Clear All Filters]
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. Eur J Med Genet 58, 39-43 (2015).
Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations. Pediatr Neurol 51, 806-813.e8 (2014).