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Satoko Miyatake

Showing results (111-120 of 212) with videos related to

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Journal of Human Genetics|October 11, 2020
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophyMasamune Sakamoto, Kazuhiro Iwama, Futoshi Sekiguchi, et al.
Journal of Human Genetics|January 15, 2016
De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotoniaRyoko Fukai, Hirotomo Saitsu, Nobuhiko Okamoto, et al.
Human Mutation|May 17, 2018
De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathyHazrat Belal, Mitsuko Nakashima, Hiroshi Matsumoto, et al.
American Journal of Medical Genetics. Part A|December 20, 2013
Aortic aneurysm and craniosynostosis in a family with Cantu syndromeYoko Hiraki, Satoko Miyatake, Michiko Hayashidani, et al.
Journal of Human Genetics|January 13, 2017
PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorderTakeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, et al.
American Journal of Medical Genetics. Part A|June 7, 2016
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndromeNoriko Miyake, Ghada Abdel-Salam, Takanori Yamagata, et al.
American Journal of Human Genetics|February 4, 2018
Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic EncephalopathyHiroki Mutoh, Mitsuhiro Kato, Tenpei Akita, et al.
Scientific Reports|November 25, 2014
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutationHiroshi Doi, Masao Ushiyama, Takashi Baba, et al.
Clinical Genetics|July 28, 2018
A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopeniaYuri Uchiyama, Kunio Yanagisawa, Shinji Kunishima, et al.
Clinical Genetics|December 28, 2022
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variantsYuta Inoue, Naomi Tsuchida, Nobuhiko Okamoto, et al.
Pageof 22

Showing results (111-120 of 212) with videos related to

Sort By:
Pageof 22
Journal of Human Genetics|October 11, 2020
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophyMasamune Sakamoto, Kazuhiro Iwama, Futoshi Sekiguchi, et al.
Journal of Human Genetics|January 15, 2016
De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotoniaRyoko Fukai, Hirotomo Saitsu, Nobuhiko Okamoto, et al.
Human Mutation|May 17, 2018
De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathyHazrat Belal, Mitsuko Nakashima, Hiroshi Matsumoto, et al.
American Journal of Medical Genetics. Part A|December 20, 2013
Aortic aneurysm and craniosynostosis in a family with Cantu syndromeYoko Hiraki, Satoko Miyatake, Michiko Hayashidani, et al.
Journal of Human Genetics|January 13, 2017
PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorderTakeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, et al.
American Journal of Medical Genetics. Part A|June 7, 2016
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndromeNoriko Miyake, Ghada Abdel-Salam, Takanori Yamagata, et al.
American Journal of Human Genetics|February 4, 2018
Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic EncephalopathyHiroki Mutoh, Mitsuhiro Kato, Tenpei Akita, et al.
Scientific Reports|November 25, 2014
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutationHiroshi Doi, Masao Ushiyama, Takashi Baba, et al.
Clinical Genetics|July 28, 2018
A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopeniaYuri Uchiyama, Kunio Yanagisawa, Shinji Kunishima, et al.
Clinical Genetics|December 28, 2022
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variantsYuta Inoue, Naomi Tsuchida, Nobuhiko Okamoto, et al.
Pageof 22