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Takeshi Mizuguchi

Showing results (91-100 of 185) with videos related to

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Internal Medicine (Tokyo, Japan)|August 26, 2021
Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear InclusionsTomoya Kawazoe, Shinsuke Tobisawa, Keizo Sugaya, et al.
Clinical Epigenetics|February 19, 2025
Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignatureTakeshi Mizuguchi, Nobuhiko Okamoto, Taiki Hara, et al.
Journal of Human Genetics|February 15, 2018
A homozygous NOP14 variant is likely to cause recurrent pregnancy lossToshifumi Suzuki, Mahdiyeh Behnam, Firooze Ronasian, et al.
Journal of Human Genetics|April 15, 2006
A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in NaganoTakako Ohata, Kunihiro Yoshida, Haruya Sakai, et al.
Frontiers in Neurology|August 6, 2025
Non-coding repeat analyses in patients with Parkinson's diseaseMakito Hirano, Makoto Samukawa, Satoko Miyatake, et al.
Journal of Human Genetics|November 29, 2023
A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalitiesMasamune Sakamoto, Kenji Kurosawa, Koji Tanoue, et al.
American Journal of Medical Genetics. Part A|June 7, 2005
Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic herniaOsamu Shimokawa, Noriko Miyake, Takazumi Yoshimura, et al.
Journal of Human Genetics|July 7, 2021
Novel CLTC variants cause new brain and kidney phenotypesToshiyuki Itai, Satoko Miyatake, Naomi Tsuchida, et al.
Journal of Human Genetics|May 2, 2025
Hemizygous SMARCA1 variants cause X-linked intellectual disabilityNaoto Nishimura, Takeshi Mizuguchi, Keisuke Hamada, 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.
Pageof 19

Showing results (91-100 of 185) with videos related to

Sort By:
Pageof 19
Internal Medicine (Tokyo, Japan)|August 26, 2021
Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear InclusionsTomoya Kawazoe, Shinsuke Tobisawa, Keizo Sugaya, et al.
Clinical Epigenetics|February 19, 2025
Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignatureTakeshi Mizuguchi, Nobuhiko Okamoto, Taiki Hara, et al.
Journal of Human Genetics|February 15, 2018
A homozygous NOP14 variant is likely to cause recurrent pregnancy lossToshifumi Suzuki, Mahdiyeh Behnam, Firooze Ronasian, et al.
Journal of Human Genetics|April 15, 2006
A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in NaganoTakako Ohata, Kunihiro Yoshida, Haruya Sakai, et al.
Frontiers in Neurology|August 6, 2025
Non-coding repeat analyses in patients with Parkinson's diseaseMakito Hirano, Makoto Samukawa, Satoko Miyatake, et al.
Journal of Human Genetics|November 29, 2023
A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalitiesMasamune Sakamoto, Kenji Kurosawa, Koji Tanoue, et al.
American Journal of Medical Genetics. Part A|June 7, 2005
Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic herniaOsamu Shimokawa, Noriko Miyake, Takazumi Yoshimura, et al.
Journal of Human Genetics|July 7, 2021
Novel CLTC variants cause new brain and kidney phenotypesToshiyuki Itai, Satoko Miyatake, Naomi Tsuchida, et al.
Journal of Human Genetics|May 2, 2025
Hemizygous SMARCA1 variants cause X-linked intellectual disabilityNaoto Nishimura, Takeshi Mizuguchi, Keisuke Hamada, 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.
Pageof 19