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Takeshi Mizuguchi

Showing results (61-70 of 185) with videos related to

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Journal of Human Genetics|January 11, 2019
A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21Takeshi Mizuguchi, Mitsuko Nakashima, Lip H Moey, et al.
Journal of Human Genetics|March 2, 2018
A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxiaHiroyuki Fukuda, Eri Imagawa, Kohei Hamanaka, et al.
American Journal of Medical Genetics. Part A|November 23, 2011
Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2)Hirotomo Saitsu, Hitoshi Osaka, Shirou Sugiyama, et al.
Nature|October 14, 2014
Cohesin-dependent globules and heterochromatin shape 3D genome architecture in S. pombeTakeshi Mizuguchi, Geoffrey Fudenberg, Sameet Mehta, et al.
Journal of Human Genetics|December 12, 2022
A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8Masamune Sakamoto, Toshihide Shiiki, Shuji Matsui, et al.
Human Genome Variation|October 5, 2020
Nonsense variants of <i>STAG2</i> result in distinct congenital anomaliesHiromi Aoi, Ming Lei, Takeshi Mizuguchi, et al.
European Journal of Medical Genetics|September 20, 2019
Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2Takehiko Inui, Kazuhiro Iwama, Takuya Miyabayashi, et al.
Journal of Human Genetics|February 16, 2019
Nonsense variants in STAG2 result in distinct sex-dependent phenotypesHiromi Aoi, Ming Lei, Takeshi Mizuguchi, et al.
Journal of Human Genetics|August 17, 2023
Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipationTakeshi Mizuguchi, Tomoko Toyota, Eriko Koshimizu, et al.
Journal of Human Genetics|February 15, 2019
A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencingTakeshi Mizuguchi, Takeshi Suzuki, Chihiro Abe, et al.
Pageof 19

Showing results (61-70 of 185) with videos related to

Sort By:
Pageof 19
Journal of Human Genetics|January 11, 2019
A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21Takeshi Mizuguchi, Mitsuko Nakashima, Lip H Moey, et al.
Journal of Human Genetics|March 2, 2018
A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxiaHiroyuki Fukuda, Eri Imagawa, Kohei Hamanaka, et al.
American Journal of Medical Genetics. Part A|November 23, 2011
Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2)Hirotomo Saitsu, Hitoshi Osaka, Shirou Sugiyama, et al.
Nature|October 14, 2014
Cohesin-dependent globules and heterochromatin shape 3D genome architecture in S. pombeTakeshi Mizuguchi, Geoffrey Fudenberg, Sameet Mehta, et al.
Journal of Human Genetics|December 12, 2022
A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8Masamune Sakamoto, Toshihide Shiiki, Shuji Matsui, et al.
Human Genome Variation|October 5, 2020
Nonsense variants of <i>STAG2</i> result in distinct congenital anomaliesHiromi Aoi, Ming Lei, Takeshi Mizuguchi, et al.
European Journal of Medical Genetics|September 20, 2019
Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2Takehiko Inui, Kazuhiro Iwama, Takuya Miyabayashi, et al.
Journal of Human Genetics|February 16, 2019
Nonsense variants in STAG2 result in distinct sex-dependent phenotypesHiromi Aoi, Ming Lei, Takeshi Mizuguchi, et al.
Journal of Human Genetics|August 17, 2023
Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipationTakeshi Mizuguchi, Tomoko Toyota, Eriko Koshimizu, et al.
Journal of Human Genetics|February 15, 2019
A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencingTakeshi Mizuguchi, Takeshi Suzuki, Chihiro Abe, et al.
Pageof 19