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Jun Tohyama

Showing results (71-80 of 102) with videos related to

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Human Mutation|February 2, 2006
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemiaShigeo Kure, Kumi Kato, Agirios Dinopoulos, et al.
Epilepsia|November 19, 2011
Acute encephalopathy in children with Dravet syndromeAkihisa Okumura, Mitsugu Uematsu, George Imataka, et al.
Journal of Human Genetics|January 19, 2019
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizuresMitsuko Nakashima, Jun Tohyama, Eiji Nakagawa, et al.
Molecular Genetics and Metabolism|March 31, 2018
Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screeningRina Itagaki, Masahiro Endo, Hiroko Yanagisawa, et al.
Brain & Development|March 31, 2009
Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplicationsKeiko Shimojima, Takehiko Inoue, Ai Hoshino, 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.
Nature Genetics|May 13, 2008
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathyHirotomo Saitsu, Mitsuhiro Kato, Takeshi Mizuguchi, et al.
Clinical Genetics|October 4, 2018
GRIN2D variants in three cases of developmental and epileptic encephalopathyNaomi Tsuchida, Keisuke Hamada, Masaaki Shiina, et al.
Annals of Clinical and Translational Neurology|March 22, 2018
<i>De novo</i> variants in <i>CAMK2A</i> and <i>CAMK2B</i> cause neurodevelopmental disordersTenpei Akita, Kazushi Aoto, Mitsuhiro Kato, et al.
Annals of Neurology|May 29, 2015
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIbMitsuko Nakashima, Hirotomo Saitsu, Nobuyuki Takei, et al.
Pageof 11

Showing results (71-80 of 102) with videos related to

Sort By:
Pageof 11
Human Mutation|February 2, 2006
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemiaShigeo Kure, Kumi Kato, Agirios Dinopoulos, et al.
Epilepsia|November 19, 2011
Acute encephalopathy in children with Dravet syndromeAkihisa Okumura, Mitsugu Uematsu, George Imataka, et al.
Journal of Human Genetics|January 19, 2019
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizuresMitsuko Nakashima, Jun Tohyama, Eiji Nakagawa, et al.
Molecular Genetics and Metabolism|March 31, 2018
Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screeningRina Itagaki, Masahiro Endo, Hiroko Yanagisawa, et al.
Brain & Development|March 31, 2009
Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplicationsKeiko Shimojima, Takehiko Inoue, Ai Hoshino, 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.
Nature Genetics|May 13, 2008
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathyHirotomo Saitsu, Mitsuhiro Kato, Takeshi Mizuguchi, et al.
Clinical Genetics|October 4, 2018
GRIN2D variants in three cases of developmental and epileptic encephalopathyNaomi Tsuchida, Keisuke Hamada, Masaaki Shiina, et al.
Annals of Clinical and Translational Neurology|March 22, 2018
<i>De novo</i> variants in <i>CAMK2A</i> and <i>CAMK2B</i> cause neurodevelopmental disordersTenpei Akita, Kazushi Aoto, Mitsuhiro Kato, et al.
Annals of Neurology|May 29, 2015
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIbMitsuko Nakashima, Hirotomo Saitsu, Nobuyuki Takei, et al.
Pageof 11