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Yoko Aoki

Showing results (231-240 of 255) with videos related to

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American Journal of Medical Genetics. Part A|April 17, 2008
Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007Katherine A Rauen, Erin Hefner, Kristin Carrillo, et al.
Human Mutation|January 7, 2010
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activationTomoko Kobayashi, Yoko Aoki, Tetsuya Niihori, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approachBruce Korf, Reza Ahmadian, Judith Allanson, et al.
American Journal of Human Genetics|June 20, 2023
CGG repeat expansion in LRP12 in amyotrophic lateral sclerosisKodai Kume, Takashi Kurashige, Keiko Muguruma, et al.
American Journal of Medical Genetics. Part A|February 24, 2011
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndromeAngela E Lin, Mark E Alexander, Steven D Colan, et al.
Journal of Human Genetics|January 17, 2025
Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in JapanKinuko Ohneda, Yoichi Suzuki, Yohei Hamanaka, et al.
Journal of Human Genetics|February 26, 2016
Human genetic variation database, a reference database of genetic variations in the Japanese populationKoichiro Higasa, Noriko Miyake, Jun Yoshimura, et al.
Journal of Human Genetics|July 8, 2021
The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank ProjectHiroshi Kawame, Akimune Fukushima, Nobuo Fuse, et al.
Nature Communications|April 2, 2021
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humansAngelica Gualtieri, Nikolina Kyprianou, Louise C Gregory, et al.
Journal of Gastroenterology|November 17, 2025
TRPV6-related pancreatitis: natural history and the impact of the pancreas-specific deletion on pancreatitis in miceAtsushi Masamune, Emmanuelle Masson, Wen-Bin Zou, et al.
Pageof 26

Showing results (231-240 of 255) with videos related to

Sort By:
Pageof 26
American Journal of Medical Genetics. Part A|April 17, 2008
Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007Katherine A Rauen, Erin Hefner, Kristin Carrillo, et al.
Human Mutation|January 7, 2010
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activationTomoko Kobayashi, Yoko Aoki, Tetsuya Niihori, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approachBruce Korf, Reza Ahmadian, Judith Allanson, et al.
American Journal of Human Genetics|June 20, 2023
CGG repeat expansion in LRP12 in amyotrophic lateral sclerosisKodai Kume, Takashi Kurashige, Keiko Muguruma, et al.
American Journal of Medical Genetics. Part A|February 24, 2011
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndromeAngela E Lin, Mark E Alexander, Steven D Colan, et al.
Journal of Human Genetics|January 17, 2025
Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in JapanKinuko Ohneda, Yoichi Suzuki, Yohei Hamanaka, et al.
Journal of Human Genetics|February 26, 2016
Human genetic variation database, a reference database of genetic variations in the Japanese populationKoichiro Higasa, Noriko Miyake, Jun Yoshimura, et al.
Journal of Human Genetics|July 8, 2021
The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank ProjectHiroshi Kawame, Akimune Fukushima, Nobuo Fuse, et al.
Nature Communications|April 2, 2021
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humansAngelica Gualtieri, Nikolina Kyprianou, Louise C Gregory, et al.
Journal of Gastroenterology|November 17, 2025
TRPV6-related pancreatitis: natural history and the impact of the pancreas-specific deletion on pancreatitis in miceAtsushi Masamune, Emmanuelle Masson, Wen-Bin Zou, et al.
Pageof 26