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Journal of Human Genetics|August 13, 2008
Appropriate data cleaning methods for genome-wide association studyTaku Miyagawa, Nao Nishida, Jun Ohashi, et al.Neurobiology of Disease|June 24, 2019
Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42Shunta Hashiguchi, Hiroshi Doi, Misako Kunii, et al.Journal of Medical Genetics|November 29, 2012
A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)Haruo Shimazaki, Yoshihisa Takiyama, Hiroyuki Ishiura, et al.Movement Disorders : Official Journal of the Movement Disorder Society|October 7, 2020
Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement DisordersWai Yan Yau, Jana Vandrovcova, Roisin Sullivan, et al.Genomics|May 16, 2009
Genetic association study on in and around the APOE in late-onset Alzheimer disease in JapaneseNorihiro Takei, Akinori Miyashita, Tamao Tsukie, et al.Internal Medicine (Tokyo, Japan)|August 14, 2018
An Autopsy Case of Familial Neuronal Intranuclear Inclusion Disease with Dementia and NeuropathyNanaka Yamaguchi, Tatsuo Mano, Ryo Ohtomo, et al.Scientific Reports|November 25, 2014
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutationHiroshi Doi, Masao Ushiyama, Takashi Baba, et al.The American Journal of Cardiology|September 13, 2011
Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 geneNaomi Ogawa, Yasushi Imai, Yuji Takahashi, et al.BMC Medical Genomics|August 19, 2021
Brainstem intraparenchymal schwannoma with genetic analysis: a case report and literature reviewDaiichiro Ishigami, Satoru Miyawaki, Hirofumi Nakatomi, et al.American Journal of Human Genetics|October 15, 2013
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19Yuji Takahashi, Yoko Fukuda, Jun Yoshimura, et al.Pageof 53