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Takeshi Mizuguchi

Showing results (151-160 of 185) with videos related to

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NPJ Genomic Medicine|October 26, 2022
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencingSatoko Miyatake, Eriko Koshimizu, Atsushi Fujita, et al.
American Journal of Medical Genetics. Part A|July 13, 2006
Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypesHaruya Sakai, Remco Visser, Shiro Ikegawa, et al.
American Journal of Medical Genetics. Part A|May 3, 2013
Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literatureTomoki Kosho, Nobuhiko Okamoto, Hirofumi Ohashi, et al.
American Journal of Human Genetics|January 4, 2011
SMOC1 is essential for ocular and limb development in humans and miceIppei Okada, Haruka Hamanoue, Koji Terada, et al.
Annals of Neurology|August 22, 2019
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with LeukoencephalopathyMasaki Okubo, Hiroshi Doi, Ryoko Fukai, et al.
Annals of Neurology|November 10, 2018
Biallelic COLGALT1 variants are associated with cerebral small vessel diseaseSatoko Miyatake, Sacha Schneeberger, Norihisa Koyama, et al.
Human Genetics|May 3, 2022
Monogenic causes of pigmentary mosaicismKen Saida, Pin Fee Chong, Asuka Yamaguchi, et al.
Journal of Human Genetics|January 22, 2025
Clinical and genetic spectrum of patients with IRF2BPL syndromeKazuhiro Iwama, Mitsuhiro Kato, Yuri Uchiyama, et al.
Nature Genetics|March 20, 2012
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndromeYoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi, et al.
Epilepsia Open|September 11, 2020
Clinical and genetic characteristics of patients with Doose syndromeNodoka Hinokuma, Mitsuko Nakashima, Hideyuki Asai, et al.
Pageof 19

Showing results (151-160 of 185) with videos related to

Sort By:
Pageof 19
NPJ Genomic Medicine|October 26, 2022
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencingSatoko Miyatake, Eriko Koshimizu, Atsushi Fujita, et al.
American Journal of Medical Genetics. Part A|July 13, 2006
Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypesHaruya Sakai, Remco Visser, Shiro Ikegawa, et al.
American Journal of Medical Genetics. Part A|May 3, 2013
Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literatureTomoki Kosho, Nobuhiko Okamoto, Hirofumi Ohashi, et al.
American Journal of Human Genetics|January 4, 2011
SMOC1 is essential for ocular and limb development in humans and miceIppei Okada, Haruka Hamanoue, Koji Terada, et al.
Annals of Neurology|August 22, 2019
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with LeukoencephalopathyMasaki Okubo, Hiroshi Doi, Ryoko Fukai, et al.
Annals of Neurology|November 10, 2018
Biallelic COLGALT1 variants are associated with cerebral small vessel diseaseSatoko Miyatake, Sacha Schneeberger, Norihisa Koyama, et al.
Human Genetics|May 3, 2022
Monogenic causes of pigmentary mosaicismKen Saida, Pin Fee Chong, Asuka Yamaguchi, et al.
Journal of Human Genetics|January 22, 2025
Clinical and genetic spectrum of patients with IRF2BPL syndromeKazuhiro Iwama, Mitsuhiro Kato, Yuri Uchiyama, et al.
Nature Genetics|March 20, 2012
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndromeYoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi, et al.
Epilepsia Open|September 11, 2020
Clinical and genetic characteristics of patients with Doose syndromeNodoka Hinokuma, Mitsuko Nakashima, Hideyuki Asai, et al.
Pageof 19