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Yoichi Matsubara

Showing results (11-20 of 165) with videos related to

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Seizure|August 30, 2011
Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature reviewMasao Adachi, Yu Abe, Yoko Aoki, et al.
Journal of Human Genetics|October 9, 2015
Recent advances in RASopathiesYoko Aoki, Tetsuya Niihori, Shin-ichi Inoue, et al.
Human Mutation|September 1, 2005
Mutations in the holocarboxylase synthetase gene HLCSYoichi Suzuki, Xue Yang, Yoko Aoki, et al.
Human Mutation|May 13, 2008
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disordersYoko Aoki, Tetsuya Niihori, Yoko Narumi, et al.
Journal of Human Genetics|November 1, 2006
Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemiaOsamu Sakamoto, Toshihiro Ohura, Yoichi Matsubara, et al.
Brain Research|January 18, 2006
De novo and salvage pathways of DNA synthesis in primary cultured neurall stem cellsKenichi Sato, Junko Kanno, Teiji Tominaga, et al.
The Laryngoscope|July 6, 2004
Mutation detection of GJB2 using IsoCode and real-time quantitative polymerase chain reaction with SYBR green I dye for newborn hearing screeningTakayuki Kudo, Takeshi Oshima, Shigeo Kure, et al.
Neurology|August 15, 2012
Clinical reasoning: a young man with progressive subcortical lesions and optic nerve atrophyShoko Komatsuzaki, Osamu Sakamoto, Nobuo Fuse, et al.
American Journal of Medical Genetics. Part A|April 23, 2004
Association between nonsyndromic cleft lip with or without cleft palate and the glutamic acid decarboxylase 67 gene in the Japanese populationKiyoshi Kanno, Yoichi Suzuki, Atsushi Yamada, et al.
Acta Dermato-Venereologica|June 28, 2012
A case of almost unilateral focal dermal hypoplasia resulting from a novel mutation in the PORCN geneMasayuki Asano, Taku Fujimura, Chihiro Wakusawa, et al.
Pageof 17

Showing results (11-20 of 165) with videos related to

Sort By:
Pageof 17
Seizure|August 30, 2011
Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature reviewMasao Adachi, Yu Abe, Yoko Aoki, et al.
Journal of Human Genetics|October 9, 2015
Recent advances in RASopathiesYoko Aoki, Tetsuya Niihori, Shin-ichi Inoue, et al.
Human Mutation|September 1, 2005
Mutations in the holocarboxylase synthetase gene HLCSYoichi Suzuki, Xue Yang, Yoko Aoki, et al.
Human Mutation|May 13, 2008
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disordersYoko Aoki, Tetsuya Niihori, Yoko Narumi, et al.
Journal of Human Genetics|November 1, 2006
Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemiaOsamu Sakamoto, Toshihiro Ohura, Yoichi Matsubara, et al.
Brain Research|January 18, 2006
De novo and salvage pathways of DNA synthesis in primary cultured neurall stem cellsKenichi Sato, Junko Kanno, Teiji Tominaga, et al.
The Laryngoscope|July 6, 2004
Mutation detection of GJB2 using IsoCode and real-time quantitative polymerase chain reaction with SYBR green I dye for newborn hearing screeningTakayuki Kudo, Takeshi Oshima, Shigeo Kure, et al.
Neurology|August 15, 2012
Clinical reasoning: a young man with progressive subcortical lesions and optic nerve atrophyShoko Komatsuzaki, Osamu Sakamoto, Nobuo Fuse, et al.
American Journal of Medical Genetics. Part A|April 23, 2004
Association between nonsyndromic cleft lip with or without cleft palate and the glutamic acid decarboxylase 67 gene in the Japanese populationKiyoshi Kanno, Yoichi Suzuki, Atsushi Yamada, et al.
Acta Dermato-Venereologica|June 28, 2012
A case of almost unilateral focal dermal hypoplasia resulting from a novel mutation in the PORCN geneMasayuki Asano, Taku Fujimura, Chihiro Wakusawa, et al.
Pageof 17