Showing results (81-90 of 108) with videos related to
Sort By:
Pageof 11
Journal of Human Genetics|March 8, 2013
Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in JapanMakiko Hayashi, Akiko Abe, Tatsufumi Murakami, et al.Epilepsia|June 20, 2012
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasiaHirotomo Saitsu, Mitsuhiro Kato, Hitoshi Osaka, et al.Journal of Human Genetics|February 15, 2013
A founder haplotype of APOE-Sendai mutation associated with lipoprotein glomerulopathyKentaro Toyota, Taeko Hashimoto, Daisuke Ogino, et al.Kidney International Reports|September 14, 2019
<i>In Vivo</i> Expression of NUP93 and Its Alteration by <i>NUP93</i> Mutations Causing Focal Segmental GlomerulosclerosisTaeko Hashimoto, Yutaka Harita, Keiichi Takizawa, et al.International Immunology|August 19, 2007
Human CD4+ central and effector memory T cells produce IL-21: effect on cytokine-driven proliferation of CD4+ T cell subsetsTadashi Onoda, Mizanur Rahman, Hidetoshi Nara, et al.Molecular Genetics and Metabolism Reports|November 30, 2016
Medium-chain triglyceride supplementation under a low-carbohydrate formula is a promising therapy for adult-onset type II citrullinemiaKiyoshi Hayasaka, Chikahiko Numakura, Kentaro Toyota, et al.Human Genetics|October 21, 2003
Molecular analysis of congenital central hypoventilation syndromeAyako Sasaki, Masayo Kanai, Kazuki Kijima, et al.American Journal of Medical Genetics. Part A|October 13, 2011
De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathyHirotomo Saitsu, Noboru Igarashi, Mitsuhiro Kato, et al.Journal of Inherited Metabolic Disease|February 5, 2019
Growth impairment in individuals with citrin deficiencyChikahiko Numakura, Gen Tamiya, Masao Ueki, et al.The Tohoku Journal of Experimental Medicine|June 9, 2005
Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutationsTakako Kawakami, Tetsuo Mitsui, Masayo Kanai, et al.Pageof 11