Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy
Harel T., YEŞİL G., Bayram Y., Coban-Akdemir Z., Charng W., Karaca E., ...Daha Fazla
American Journal of Human Genetics, cilt.98, sa.3, ss.562-570, 2016 (SCI-Expanded)