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Takeshi Mizuguchi

Showing results (101-110 of 185) with videos related to

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Human Mutation|May 17, 2018
De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathyHazrat Belal, Mitsuko Nakashima, Hiroshi Matsumoto, et al.
Journal of Human Genetics|October 11, 2020
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophyMasamune Sakamoto, Kazuhiro Iwama, Futoshi Sekiguchi, et al.
Genesis (New York, N.Y. : 2000)|February 11, 2010
Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegalyYuta Komoike, Katsunori Fujii, Akira Nishimura, et al.
BMC Ophthalmology|October 14, 2025
Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variantsThainá Vilella, Beatriz Carvalho Nunes, Giulia Steuernagel Del Valle, et al.
American Journal of Medical Genetics. Part A|June 7, 2016
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndromeNoriko Miyake, Ghada Abdel-Salam, Takanori Yamagata, et al.
Neurology|June 15, 2019
Pathogenic variants of <i>DYNC2H1</i>, <i>KIAA0556</i>, and <i>PTPN11</i> associated with hypothalamic hamartomaAtsushi Fujita, Takefumi Higashijima, Hiroshi Shirozu, et al.
Journal of Human Genetics|October 16, 2024
Biallelic missense CEP55 variants cause prenatal MARCH syndromeLi Fu, Yuka Yamamoto, Rie Seyama, et al.
Clinical Genetics|July 28, 2018
A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopeniaYuri Uchiyama, Kunio Yanagisawa, Shinji Kunishima, et al.
Clinical Genetics|December 28, 2022
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variantsYuta Inoue, Naomi Tsuchida, Nobuhiko Okamoto, et al.
Genomics|August 30, 2022
Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotypeShinichi Kameyama, Takeshi Mizuguchi, Hiroshi Doi, et al.
Pageof 19

Showing results (101-110 of 185) with videos related to

Sort By:
Pageof 19
Human Mutation|May 17, 2018
De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathyHazrat Belal, Mitsuko Nakashima, Hiroshi Matsumoto, et al.
Journal of Human Genetics|October 11, 2020
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophyMasamune Sakamoto, Kazuhiro Iwama, Futoshi Sekiguchi, et al.
Genesis (New York, N.Y. : 2000)|February 11, 2010
Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegalyYuta Komoike, Katsunori Fujii, Akira Nishimura, et al.
BMC Ophthalmology|October 14, 2025
Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variantsThainá Vilella, Beatriz Carvalho Nunes, Giulia Steuernagel Del Valle, et al.
American Journal of Medical Genetics. Part A|June 7, 2016
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndromeNoriko Miyake, Ghada Abdel-Salam, Takanori Yamagata, et al.
Neurology|June 15, 2019
Pathogenic variants of <i>DYNC2H1</i>, <i>KIAA0556</i>, and <i>PTPN11</i> associated with hypothalamic hamartomaAtsushi Fujita, Takefumi Higashijima, Hiroshi Shirozu, et al.
Journal of Human Genetics|October 16, 2024
Biallelic missense CEP55 variants cause prenatal MARCH syndromeLi Fu, Yuka Yamamoto, Rie Seyama, et al.
Clinical Genetics|July 28, 2018
A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopeniaYuri Uchiyama, Kunio Yanagisawa, Shinji Kunishima, et al.
Clinical Genetics|December 28, 2022
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variantsYuta Inoue, Naomi Tsuchida, Nobuhiko Okamoto, et al.
Genomics|August 30, 2022
Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotypeShinichi Kameyama, Takeshi Mizuguchi, Hiroshi Doi, et al.
Pageof 19