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Journal of Clinical Lipidology|July 3, 2026
Vitamin K1 as a screening marker to facilitate the genetic diagnosis of class I familial hypobetalipoproteinemia: A prospective cohort study with a systematic review analysisMasaki Tanaka, Sachiko Okazaki, Manabu Takahashi, et al.Journal of Human Genetics|September 13, 2020
Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese populationHiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, et al.Pediatrics International : Official Journal of the Japan Pediatric Society|March 3, 2021
The long and winding road to the etiology of idiopathic nephrotic syndrome in children: Focusing on abnormalities in the gut microbiotaShoji Tsuji, Kazunari KanekoCurrent Opinion in Genetics & Development|August 11, 2020
Advances in repeat expansion diseases and a new concept of repeat motif-phenotype correlationHiroyuki Ishiura, Shoji TsujiGan to Kagaku Ryoho. Cancer & Chemotherapy|June 23, 2010
[Neurological syndromes, encephalitis]Tomotaka Yamamoto, Shoji TsujiBrain and Nerve = Shinkei Kenkyu No Shinpo|August 18, 2010
[Anti-Ma2-associated encephalitis and paraneoplastic limbic encephalitis]Tomotaka Yamamoto, Shoji TsujiBrain and Nerve = Shinkei Kenkyu No Shinpo|February 25, 2009
[Central nervous system histoplasmosis]Masashi Hamada, Shoji TsujiRinsho Shinkeigaku = Clinical Neurology|September 17, 2011
[Massively parallel sequence analysis for revealing causes of neuromuscular disorders]Hiroyuki Ishiura, Shoji TsujiRinsho Shinkeigaku = Clinical Neurology|December 3, 2013
[Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is caused by a mutation in TFG]Hiroyuki Ishiura, Shoji TsujiJournal of Neurogenetics|November 6, 2015
Epidemiology and molecular mechanism of frontotemporal lobar degeneration/amyotrophic lateral sclerosis with repeat expansion mutation in C9orf72Hiroyuki Ishiura, Shoji TsujiPageof 53