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Brain & Development|April 14, 2017
Characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutationsNaoko Kurahashi, Noriko Miyake, Seiji Mizuno, et al.Brain & Development|May 19, 2022
Long-term changes in electroencephalogram findings in a girl with a nonsense SMC1A variant: A case reportKazuhiko Hashimoto, Shimpei Baba, Eiji Nakagawa, et al.Journal of Medical Genetics|September 26, 2024
Pathogenic <i>SATB2</i> missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypesJoery den Hoed, Hirokazu Hashimoto, Mubeen Khan, et al.Clinical Genetics|December 27, 2021
Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencingYumi Enomoto, Takayuki Yokoi, Yoshinori Tsurusaki, et al.Molecular Genetics and Metabolism|May 23, 2026
Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD)Anjana Sevagamoorthy, Sarah Woidill, Gabrielle Sudilovsky, 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.American Journal of Medical Genetics. Part A|August 18, 2020
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndromeHiroaki Murakami, Yoshinori Tsurusaki, Keisuke Enomoto, et al.Pageof 3