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Yoko Aoki

Showing results (211-220 of 255) with videos related to

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Journal of Human Genetics|October 1, 2010
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignanciesShoko Komatsuzaki, Yoko Aoki, Tetsuya Niihori, et al.
Annals of Clinical and Translational Neurology|May 16, 2018
Genomic analysis identifies masqueraders of full-term cerebral palsyYusuke Takezawa, Atsuo Kikuchi, Kazuhiro Haginoya, et al.
Journal of Medical Genetics|August 21, 2007
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndromeCaroline Nava, Nadine Hanna, Caroline Michot, et al.
Japanese Journal of Infectious Diseases|April 1, 2021
Epidemiology of Coronavirus Disease 2019 in Yamagata Prefecture, Japan, January-May 2020: the Importance of Retrospective Contact TracingJunji Seto, Yoko Aoki, Kenichi Komabayashi, et al.
Journal of Human Genetics|February 10, 2004
Linkage and association of childhood asthma with the chromosome 12 genesChenchen Shao, Yoichi Suzuki, Fumiaki Kamada, et al.
Human Mutation|March 25, 2017
Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficultiesJunpei Tanigawa, Haruka Mimatsu, Seiji Mizuno, et al.
Journal of Human Genetics|July 25, 2008
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndromeYoko Narumi, Yoko Aoki, Tetsuya Niihori, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 20, 2018
Biallelic GALM pathogenic variants cause a novel type of galactosemiaYoichi Wada, Atsuo Kikuchi, Natsuko Arai-Ichinoi, et al.
Human Molecular Genetics|December 16, 2011
Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humansAyumi Narisawa, Shoko Komatsuzaki, Atsuo Kikuchi, et al.
Journal of Human Genetics|August 19, 2011
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndromeTetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto, et al.
Pageof 26

Showing results (211-220 of 255) with videos related to

Sort By:
Pageof 26
Journal of Human Genetics|October 1, 2010
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignanciesShoko Komatsuzaki, Yoko Aoki, Tetsuya Niihori, et al.
Annals of Clinical and Translational Neurology|May 16, 2018
Genomic analysis identifies masqueraders of full-term cerebral palsyYusuke Takezawa, Atsuo Kikuchi, Kazuhiro Haginoya, et al.
Journal of Medical Genetics|August 21, 2007
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndromeCaroline Nava, Nadine Hanna, Caroline Michot, et al.
Japanese Journal of Infectious Diseases|April 1, 2021
Epidemiology of Coronavirus Disease 2019 in Yamagata Prefecture, Japan, January-May 2020: the Importance of Retrospective Contact TracingJunji Seto, Yoko Aoki, Kenichi Komabayashi, et al.
Journal of Human Genetics|February 10, 2004
Linkage and association of childhood asthma with the chromosome 12 genesChenchen Shao, Yoichi Suzuki, Fumiaki Kamada, et al.
Human Mutation|March 25, 2017
Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficultiesJunpei Tanigawa, Haruka Mimatsu, Seiji Mizuno, et al.
Journal of Human Genetics|July 25, 2008
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndromeYoko Narumi, Yoko Aoki, Tetsuya Niihori, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 20, 2018
Biallelic GALM pathogenic variants cause a novel type of galactosemiaYoichi Wada, Atsuo Kikuchi, Natsuko Arai-Ichinoi, et al.
Human Molecular Genetics|December 16, 2011
Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humansAyumi Narisawa, Shoko Komatsuzaki, Atsuo Kikuchi, et al.
Journal of Human Genetics|August 19, 2011
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndromeTetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto, et al.
Pageof 26