Publications
Export 2 results:
Author Title [ Year
] Filters: Author is Çağlayan, Ahmet Okay and Keyword is Developmental Disabilities [Clear All Filters]
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. Am J Hum Genet 99, 1181-1189 (2016).
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. Eur J Med Genet 58, 39-43 (2015).
