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Journal of Human Genetics|October 29, 2010
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomaliesShin Hayashi, Issei Imoto, Yoshinori Aizu, et al.Journal of Human Genetics|January 22, 2025
Clinical and genetic spectrum of patients with IRF2BPL syndromeKazuhiro Iwama, Mitsuhiro Kato, Yuri Uchiyama, et al.JAMA Neurology|April 4, 2018
Association of HLA-A*31:01 Screening With the Incidence of Carbamazepine-Induced Cutaneous Adverse Reactions in a Japanese PopulationTaisei Mushiroda, Yukitoshi Takahashi, Teiichi Onuma, et al.Annals of Neurology|December 11, 2012
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephalyYuriko Yoneda, Kazuhiro Haginoya, Mitsuhiro Kato, et al.Scientific Reports|August 26, 2022
Whole-exome analysis of 177 pediatric patients with undiagnosed diseasesKotaro Narita, Hideki Muramatsu, Satoshi Narumi, et al.Cell|May 12, 2023
Structure of the endosomal Commander complex linked to Ritscher-Schinzel syndromeMichael D Healy, Kerrie E McNally, Rebeka Butkovič, et al.Cell Reports|January 19, 2018
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum DisorderAtsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, et al.Science Translational Medicine|July 2, 2025
Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathyKohji Kato, Yosuke Nishio, Kirsty J McMillan, et al.European Journal of Human Genetics : EJHG|March 27, 2023
Molecular diagnosis of 405 individuals with autism spectrum disorderNoriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2022
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophyMasamune Sakamoto, Kazuhiro Iwama, Masayuki Sasaki, et al.Pageof 27