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Yoko Aoki

Showing results (201-210 of 255) 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.
American Journal of Medical Genetics. Part A|September 12, 2015
Somatic BRAF c.1799T>A p.V600E Mosaicism syndrome characterized by a linear syringocystadenoma papilliferum, anaplastic astrocytoma, and ocular abnormalitiesYuko Watanabe, Kosuke Shido, Tetsuya Niihori, et al.
Molecular Genetics & Genomic Medicine|February 7, 2022
A novel 8.57-kb deletion of the upstream region of PRKAR1A in a family with Carney complexShin Ito, Aya Hashimoto, Kazunori Yamaguchi, et al.
Cancer Medicine|October 17, 2022
Clinical decisions by the molecular tumor board on comprehensive genomic profiling tests in Japan: A retrospective observational studyHidekazu Shirota, Keigo Komine, Masanobu Takahashi, 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.
Journal of Human Genetics|February 22, 2023
Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facilityMaako Kawamura, Hidekazu Shirota, Tetsuya Niihori, et al.
International Immunology|January 19, 2020
Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndromeSou Niitsuma, Hiroki Kudo, Atsuo Kikuchi, et al.
The Tohoku Journal of Experimental Medicine|December 18, 2024
Successful Total Callosotomy in a Patient with Lennox-Gastaut Syndrome and Cardio-Facio-Cutaneous SyndromeAritomo Kawashima, Haruhiko Nakamura, Kaori Kodama, et al.
American Journal of Human Genetics|May 28, 2019
Germline-Activating RRAS2 Mutations Cause Noonan SyndromeTetsuya Niihori, Koki Nagai, Atsushi Fujita, et al.
Familial Cancer|February 3, 2026
Attenuated Li-Fraumeni syndrome with TP53 p.R181H in a Japanese patient with metastatic rectal adenocarcinoma: a case reportYuki Kasahara, Masanobu Takahashi, Yoshifumi Kawamura, et al.
Pageof 26

Showing results (201-210 of 255) with videos related to

Sort By:
Pageof 26
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.
American Journal of Medical Genetics. Part A|September 12, 2015
Somatic BRAF c.1799T>A p.V600E Mosaicism syndrome characterized by a linear syringocystadenoma papilliferum, anaplastic astrocytoma, and ocular abnormalitiesYuko Watanabe, Kosuke Shido, Tetsuya Niihori, et al.
Molecular Genetics & Genomic Medicine|February 7, 2022
A novel 8.57-kb deletion of the upstream region of PRKAR1A in a family with Carney complexShin Ito, Aya Hashimoto, Kazunori Yamaguchi, et al.
Cancer Medicine|October 17, 2022
Clinical decisions by the molecular tumor board on comprehensive genomic profiling tests in Japan: A retrospective observational studyHidekazu Shirota, Keigo Komine, Masanobu Takahashi, 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.
Journal of Human Genetics|February 22, 2023
Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facilityMaako Kawamura, Hidekazu Shirota, Tetsuya Niihori, et al.
International Immunology|January 19, 2020
Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndromeSou Niitsuma, Hiroki Kudo, Atsuo Kikuchi, et al.
The Tohoku Journal of Experimental Medicine|December 18, 2024
Successful Total Callosotomy in a Patient with Lennox-Gastaut Syndrome and Cardio-Facio-Cutaneous SyndromeAritomo Kawashima, Haruhiko Nakamura, Kaori Kodama, et al.
American Journal of Human Genetics|May 28, 2019
Germline-Activating RRAS2 Mutations Cause Noonan SyndromeTetsuya Niihori, Koki Nagai, Atsushi Fujita, et al.
Familial Cancer|February 3, 2026
Attenuated Li-Fraumeni syndrome with TP53 p.R181H in a Japanese patient with metastatic rectal adenocarcinoma: a case reportYuki Kasahara, Masanobu Takahashi, Yoshifumi Kawamura, et al.
Pageof 26