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Journal of Human Genetics|June 4, 2010
Phenotypic variability in a family with Townes-Brocks syndromeYosuke Sudo, Chikahiko Numakura, Akiko Abe, et al.Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine|March 18, 2014
A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apneaYuko Amimoto, Kenji Okada, Hiroshi Nakano, et al.Endocrine Journal|July 13, 2012
Association of vitamin D-related gene polymorphisms with manifestation of vitamin D deficiency in childrenSachiko Kitanaka, Tsuyoshi Isojima, Minako Takaki, et al.European Journal of Clinical Investigation|August 4, 2010
Non-obese early onset diabetes mellitus in mutant cryptochrome1 transgenic miceSatoshi Okano, Kiyoshi Hayasaka, Masahiko Igarashi, et al.Journal of Child Neurology|April 16, 2003
Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: a possible mild form of Galloway-Mowat syndromeTakashi Shiihara, Mitsuhiro Kato, Toshiyuki Kimura, et al.Journal of the Neurological Sciences|October 28, 2008
A clinical phenotype of distal hereditary motor neuronopathy type II with a novel HSPB1 mutationYoshihisa Ikeda, Akiko Abe, Chiho Ishida, et al.Journal of the Neurological Sciences|May 9, 2003
Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1Chikahiko Numakura, Emi Shirahata, Sumimasa Yamashita, et al.Journal of Human Genetics|June 14, 2006
Periaxin mutation in Japanese patients with Charcot-Marie-Tooth diseaseTesshu Otagiri, Kenji Sugai, Kazuki Kijima, et al.Journal of Neurophysiology|June 16, 2006
Ankyrin-G regulates inactivation gating of the neuronal sodium channel, Nav1.6Emi Shirahata, Hirohide Iwasaki, Masahiro Takagi, et al.Journal of Human Genetics|September 13, 2005
Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathyKazuki Kijima, Chikahiko Numakura, Tomohide Goto, et al.Pageof 11