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Satoko Miyatake

Showing results (151-160 of 212) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 24, 2018
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathyKohei Hamanaka, Satoko Miyatake, Eriko Koshimizu, 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.
Brain : a Journal of Neurology|April 1, 2021
Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichmentTakeshi Mizuguchi, Tomoko Toyota, Satoko Miyatake, et al.
JAMA Neurology|May 27, 2015
A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34Kokoro Ozaki, Hiroshi Doi, Jun Mitsui, et al.
Scientific Reports|June 16, 2023
A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL associationRie Seyama, Masashi Nishikawa, Yuri Uchiyama, et al.
American Journal of Human Genetics|December 17, 2019
Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain AbnormalitiesNoriko Miyake, Hidehisa Takahashi, Kazuyuki Nakamura, et al.
American Journal of Human Genetics|December 27, 2016
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline MyopathySatoko Miyatake, Satomi Mitsuhashi, Yukiko K Hayashi, et al.
Human Molecular Genetics|April 16, 2019
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics considerationKohei Hamanaka, Atsushi Takata, Yuri Uchiyama, et al.
American Journal of Human Genetics|March 22, 2016
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and HypotoniaPeriklis Makrythanasis, Mitsuhiro Kato, Maha S Zaki, et al.
Clinical Epigenetics|November 14, 2021
Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencingHiromi Fukuda, Daisuke Yamaguchi, Kristofor Nyquist, et al.
Pageof 22

Showing results (151-160 of 212) with videos related to

Sort By:
Pageof 22
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 24, 2018
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathyKohei Hamanaka, Satoko Miyatake, Eriko Koshimizu, 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.
Brain : a Journal of Neurology|April 1, 2021
Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichmentTakeshi Mizuguchi, Tomoko Toyota, Satoko Miyatake, et al.
JAMA Neurology|May 27, 2015
A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34Kokoro Ozaki, Hiroshi Doi, Jun Mitsui, et al.
Scientific Reports|June 16, 2023
A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL associationRie Seyama, Masashi Nishikawa, Yuri Uchiyama, et al.
American Journal of Human Genetics|December 17, 2019
Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain AbnormalitiesNoriko Miyake, Hidehisa Takahashi, Kazuyuki Nakamura, et al.
American Journal of Human Genetics|December 27, 2016
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline MyopathySatoko Miyatake, Satomi Mitsuhashi, Yukiko K Hayashi, et al.
Human Molecular Genetics|April 16, 2019
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics considerationKohei Hamanaka, Atsushi Takata, Yuri Uchiyama, et al.
American Journal of Human Genetics|March 22, 2016
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and HypotoniaPeriklis Makrythanasis, Mitsuhiro Kato, Maha S Zaki, et al.
Clinical Epigenetics|November 14, 2021
Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencingHiromi Fukuda, Daisuke Yamaguchi, Kristofor Nyquist, et al.
Pageof 22