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Yoko Aoki

Showing results (191-200 of 255) with videos related to

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Brain & Development|December 6, 2016
Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutationNaomi Hino-Fukuyo, Atsuo Kikuchi, Masaki Iwasaki, et al.
American Journal of Human Genetics|November 20, 2015
Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic ThrombocytopeniaTetsuya Niihori, Meri Ouchi-Uchiyama, Yoji Sasahara, et al.
Human Genetics|April 17, 2015
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndromeNaomi Hino-Fukuyo, Atsuo Kikuchi, Natsuko Arai-Ichinoi, et al.
Plos Genetics|February 27, 2020
Metabolic and pathologic profiles of human LSS deficiency recapitulated in miceYoichi Wada, Atsuo Kikuchi, Akimune Kaga, et al.
Cancer Science|March 16, 2017
Exome sequencing deciphers a germline MET mutation in familial epidermal growth factor receptor-mutant lung cancerNaoki Tode, Toshiaki Kikuchi, Tomohiro Sakakibara, et al.
Brain & Development|July 13, 2023
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1AYukimune Okubo, Moriei Shibuya, Haruhiko Nakamura, et al.
Journal of Human Genetics|November 5, 2010
A genome-wide association study identifies RNF213 as the first Moyamoya disease geneFumiaki Kamada, Yoko Aoki, Ayumi Narisawa, et al.
Molecular Genetics and Metabolism|April 3, 2004
Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118RKanako Kojima, Shigeo Kure, Fumiaki Kamada, et al.
Journal of Human Genetics|April 19, 2005
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemiaTetsuya Niihori, Yoko Aoki, Hirofumi Ohashi, et al.
Molecular Cell|November 18, 2017
NOTCH2 Hajdu-Cheney Mutations Escape SCF<sup>FBW7</sup>-Dependent Proteolysis to Promote OsteoporosisHidefumi Fukushima, Kouhei Shimizu, Asami Watahiki, et al.
Pageof 26

Showing results (191-200 of 255) with videos related to

Sort By:
Pageof 26
Brain & Development|December 6, 2016
Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutationNaomi Hino-Fukuyo, Atsuo Kikuchi, Masaki Iwasaki, et al.
American Journal of Human Genetics|November 20, 2015
Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic ThrombocytopeniaTetsuya Niihori, Meri Ouchi-Uchiyama, Yoji Sasahara, et al.
Human Genetics|April 17, 2015
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndromeNaomi Hino-Fukuyo, Atsuo Kikuchi, Natsuko Arai-Ichinoi, et al.
Plos Genetics|February 27, 2020
Metabolic and pathologic profiles of human LSS deficiency recapitulated in miceYoichi Wada, Atsuo Kikuchi, Akimune Kaga, et al.
Cancer Science|March 16, 2017
Exome sequencing deciphers a germline MET mutation in familial epidermal growth factor receptor-mutant lung cancerNaoki Tode, Toshiaki Kikuchi, Tomohiro Sakakibara, et al.
Brain & Development|July 13, 2023
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1AYukimune Okubo, Moriei Shibuya, Haruhiko Nakamura, et al.
Journal of Human Genetics|November 5, 2010
A genome-wide association study identifies RNF213 as the first Moyamoya disease geneFumiaki Kamada, Yoko Aoki, Ayumi Narisawa, et al.
Molecular Genetics and Metabolism|April 3, 2004
Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118RKanako Kojima, Shigeo Kure, Fumiaki Kamada, et al.
Journal of Human Genetics|April 19, 2005
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemiaTetsuya Niihori, Yoko Aoki, Hirofumi Ohashi, et al.
Molecular Cell|November 18, 2017
NOTCH2 Hajdu-Cheney Mutations Escape SCF<sup>FBW7</sup>-Dependent Proteolysis to Promote OsteoporosisHidefumi Fukushima, Kouhei Shimizu, Asami Watahiki, et al.
Pageof 26