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Mitsuko Nakashima

Showing results (21-30 of 208) with videos related to

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Journal of Human Genetics|August 21, 2025
A Japanese familial spastic paraplegia associated with a missense UBQLN2 variantKazuki Watanabe, Tatsuya Ema, Kenji Shimizu, et al.
Journal of Human Genetics|June 3, 2020
Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophyTakuya Hiraide, Mitsuko Nakashima, Takahiro Ikeda, et al.
Cureus|May 15, 2023
The Development and Evaluation of the Interprofessional Education Facilitation Program for Health Professionals Using the Attention, Relevance, Confidence, and Satisfaction (ARCS) Model of Instructional DesignDaisuke Son, Kazumi Kawamura, Miho Utsumi, et al.
Journal of Human Genetics|December 19, 2022
De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalitiesMitsuko Nakashima, Emanuela Argilli, Sayaka Nakano, et al.
American Journal of Medical Genetics. Part A|October 23, 2023
Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequenceShogo Furukawa, Mitsuhiro Kato, Toshihiro Nomura, et al.
Epilepsia Open|August 24, 2019
De novo variants in <i>SETD1B</i> cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absencesTakuya Hiraide, Ayako Hattori, Daisuke Ieda, et al.
Neurology. Genetics|May 27, 2022
A New Case With Cortical Malformation Caused by Biallelic Variants in <i>LAMC3</i>Kazuo Abe, Kumiko Ando, Mitsuhiro Kato, et al.
Molecular Genetics & Genomic Medicine|January 19, 2020
A de novo TOP2B variant associated with global developmental delay and autism spectrum disorderTakuya Hiraide, Seiji Watanabe, Tomoko Matsubayashi, et al.
Journal of Human Genetics|October 17, 2014
Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephalyHirotomo Saitsu, Sumimasa Yamashita, Yukichi Tanaka, et al.
American Journal of Medical Genetics. Part A|May 26, 2020
Fulminant myocarditis following recurrent generalized erythrokeratoderma in a child with a heterozygous GJA1 variantHironobu Kobayashi, Tadashi Shiohama, Mitsuko Nakashima, et al.
Pageof 21

Showing results (21-30 of 208) with videos related to

Sort By:
Pageof 21
Journal of Human Genetics|August 21, 2025
A Japanese familial spastic paraplegia associated with a missense UBQLN2 variantKazuki Watanabe, Tatsuya Ema, Kenji Shimizu, et al.
Journal of Human Genetics|June 3, 2020
Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophyTakuya Hiraide, Mitsuko Nakashima, Takahiro Ikeda, et al.
Cureus|May 15, 2023
The Development and Evaluation of the Interprofessional Education Facilitation Program for Health Professionals Using the Attention, Relevance, Confidence, and Satisfaction (ARCS) Model of Instructional DesignDaisuke Son, Kazumi Kawamura, Miho Utsumi, et al.
Journal of Human Genetics|December 19, 2022
De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalitiesMitsuko Nakashima, Emanuela Argilli, Sayaka Nakano, et al.
American Journal of Medical Genetics. Part A|October 23, 2023
Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequenceShogo Furukawa, Mitsuhiro Kato, Toshihiro Nomura, et al.
Epilepsia Open|August 24, 2019
De novo variants in <i>SETD1B</i> cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absencesTakuya Hiraide, Ayako Hattori, Daisuke Ieda, et al.
Neurology. Genetics|May 27, 2022
A New Case With Cortical Malformation Caused by Biallelic Variants in <i>LAMC3</i>Kazuo Abe, Kumiko Ando, Mitsuhiro Kato, et al.
Molecular Genetics & Genomic Medicine|January 19, 2020
A de novo TOP2B variant associated with global developmental delay and autism spectrum disorderTakuya Hiraide, Seiji Watanabe, Tomoko Matsubayashi, et al.
Journal of Human Genetics|October 17, 2014
Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephalyHirotomo Saitsu, Sumimasa Yamashita, Yukichi Tanaka, et al.
American Journal of Medical Genetics. Part A|May 26, 2020
Fulminant myocarditis following recurrent generalized erythrokeratoderma in a child with a heterozygous GJA1 variantHironobu Kobayashi, Tadashi Shiohama, Mitsuko Nakashima, et al.
Pageof 21