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Human Genetics|May 3, 2022
Monogenic causes of pigmentary mosaicismKen Saida, Pin Fee Chong, Asuka Yamaguchi, et al.American Journal of Medical Genetics. Part A|February 24, 2021
Whole genome sequencing of 45 Japanese patients with intellectual disabilityChihiro Abe-Hatano, Aritoshi Iida, Shunichi Kosugi, et al.Nature Genetics|December 11, 2012
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagyThomas Cullup, Ay Lin Kho, Carlo Dionisi-Vici, et al.Nature Communications|June 9, 2019
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathyAtsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, et al.Pageof 5