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Yoichi Matsubara

Showing results (131-140 of 165) with videos related to

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American Journal of Medical Genetics. Part A|December 6, 2005
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlationKaren W Gripp, Angela E Lin, Deborah L Stabley, et al.
Frontiers in Genetics|April 11, 2024
Functional analysis of <i>RRAS2</i> pathogenic variants with a Noonan-like phenotypeTakaya Iida, Arisa Igarashi, Kae Fukunaga, et al.
Neuromuscular Disorders : NMD|September 27, 2014
GNE myopathy associated with congenital thrombocytopenia: a report of two siblingsRumiko Izumi, Tetsuya Niihori, Naoki Suzuki, et al.
Nature Reviews. Genetics|October 26, 2011
Mutation (variation) databases and registries: a rationale for coordination of effortsArleen D Auerbach, John Burn, Jean-Jacques Cassiman, et al.
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.
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.
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.
Endocrine Journal|August 4, 2017
Next generation sequencing-based mutation screening of 86 patients with idiopathic short statureAtsushi Hattori, Yuko Katoh-Fukui, Akie Nakamura, et al.
Journal of Diabetes Investigation|November 27, 2016
Nucleotide substitutions in CD101, the human homolog of a diabetes susceptibility gene in non-obese diabetic mouse, in patients with type 1 diabetesMisako Okuno, Yoshihito Kasahara, Masafumi Onodera, et al.
Human Molecular Genetics|February 13, 2018
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disordersTakeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, et al.
Pageof 17

Showing results (131-140 of 165) with videos related to

Sort By:
Pageof 17
American Journal of Medical Genetics. Part A|December 6, 2005
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlationKaren W Gripp, Angela E Lin, Deborah L Stabley, et al.
Frontiers in Genetics|April 11, 2024
Functional analysis of <i>RRAS2</i> pathogenic variants with a Noonan-like phenotypeTakaya Iida, Arisa Igarashi, Kae Fukunaga, et al.
Neuromuscular Disorders : NMD|September 27, 2014
GNE myopathy associated with congenital thrombocytopenia: a report of two siblingsRumiko Izumi, Tetsuya Niihori, Naoki Suzuki, et al.
Nature Reviews. Genetics|October 26, 2011
Mutation (variation) databases and registries: a rationale for coordination of effortsArleen D Auerbach, John Burn, Jean-Jacques Cassiman, et al.
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.
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.
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.
Endocrine Journal|August 4, 2017
Next generation sequencing-based mutation screening of 86 patients with idiopathic short statureAtsushi Hattori, Yuko Katoh-Fukui, Akie Nakamura, et al.
Journal of Diabetes Investigation|November 27, 2016
Nucleotide substitutions in CD101, the human homolog of a diabetes susceptibility gene in non-obese diabetic mouse, in patients with type 1 diabetesMisako Okuno, Yoshihito Kasahara, Masafumi Onodera, et al.
Human Molecular Genetics|February 13, 2018
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disordersTakeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, et al.
Pageof 17