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Takeshi Mizuguchi

Showing results (131-140 of 185) with videos related to

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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.
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.
Neurology|October 22, 2021
GGC Repeat Expansion of <i>NOTCH2NLC</i> in Taiwanese Patients With Inherited NeuropathiesYi-Chu Liao, Fu-Pang Chang, Han-Wei Huang, 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.
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.
Brain : a Journal of Neurology|April 12, 2022
Neuronal intranuclear inclusion disease in patients with adult-onset non-vascular leukoencephalopathyYi Hong Liu, Ying Tsen Chou, Fu Pang Chang, 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 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.
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.
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.
Pageof 19

Showing results (131-140 of 185) with videos related to

Sort By:
Pageof 19
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.
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.
Neurology|October 22, 2021
GGC Repeat Expansion of <i>NOTCH2NLC</i> in Taiwanese Patients With Inherited NeuropathiesYi-Chu Liao, Fu-Pang Chang, Han-Wei Huang, 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.
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.
Brain : a Journal of Neurology|April 12, 2022
Neuronal intranuclear inclusion disease in patients with adult-onset non-vascular leukoencephalopathyYi Hong Liu, Ying Tsen Chou, Fu Pang Chang, 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 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.
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.
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.
Pageof 19