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Mitsuko Nakashima

Showing results (11-20 of 208) with videos related to

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Brain & Development|April 11, 2022
A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndromeKazuyuki Komatsu, Shinobu Fukumura, Kimio Minagawa, et al.
Annals of Human Genetics|March 27, 2023
Identification of pathogenic deep intronic variant and exonic LINE-1 insertion in a patient with Meckel syndromeSachiko Miyamoto, Kazuyuki Nakamura, Mitsuhiro Kato, et al.
Brain & Development|November 17, 2020
Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetranceTakuya Hiraide, Shinobu Fukumura, Akiyo Yamamoto, et al.
Journal of Human Genetics|August 18, 2019
A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephalyTakuya Hiraide, Hikari Kaba Yasui, Mitsuhiro Kato, et al.
Molecular Genetics & Genomic Medicine|December 2, 2024
Homozygous Microdeletion Involving Exon 1 of ERCC8 and NDUFAF2 With Uniparental Isodisomy of Chromosome 5Kaori Yamoto, Kosuke Yamada, Kenji Shimizu, et al.
American Journal of Medical Genetics. Part A|January 26, 2019
A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomyMitsuko Nakashima, Yutaka Negishi, Ikumi Hori, et al.
Brain & Development|February 7, 2019
Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseasesTakuya Hiraide, Tsutomu Ogata, Seiji Watanabe, et al.
Congenital Anomalies|December 15, 2019
Nanopore sequencing reveals a structural alteration of mirror-image duplicated genes in a genome-editing mouse lineSachiko Miyamoto, Kazushi Aoto, Takuya Hiraide, et al.
Congenital Anomalies|June 29, 2025
Compound heterozygous ZNF335 variants in a patient with microcephaly, refractory epilepsy, and severe developmental delay: A case report and literature reviewKaori Yamoto, Sachiko Miyamoto, Kosuke Yamada, et al.
BMC Neurology|October 24, 2024
CLCN2-related leukoencephalopathy with novel compound heterozygous variants followed with magnetic resonance imaging over 17 years: a case reportMasayuki Ohira, Hirotomo Saitsu, Mitsuko Nakashima, et al.
Pageof 21

Showing results (11-20 of 208) with videos related to

Sort By:
Pageof 21
Brain & Development|April 11, 2022
A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndromeKazuyuki Komatsu, Shinobu Fukumura, Kimio Minagawa, et al.
Annals of Human Genetics|March 27, 2023
Identification of pathogenic deep intronic variant and exonic LINE-1 insertion in a patient with Meckel syndromeSachiko Miyamoto, Kazuyuki Nakamura, Mitsuhiro Kato, et al.
Brain & Development|November 17, 2020
Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetranceTakuya Hiraide, Shinobu Fukumura, Akiyo Yamamoto, et al.
Journal of Human Genetics|August 18, 2019
A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephalyTakuya Hiraide, Hikari Kaba Yasui, Mitsuhiro Kato, et al.
Molecular Genetics & Genomic Medicine|December 2, 2024
Homozygous Microdeletion Involving Exon 1 of ERCC8 and NDUFAF2 With Uniparental Isodisomy of Chromosome 5Kaori Yamoto, Kosuke Yamada, Kenji Shimizu, et al.
American Journal of Medical Genetics. Part A|January 26, 2019
A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomyMitsuko Nakashima, Yutaka Negishi, Ikumi Hori, et al.
Brain & Development|February 7, 2019
Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseasesTakuya Hiraide, Tsutomu Ogata, Seiji Watanabe, et al.
Congenital Anomalies|December 15, 2019
Nanopore sequencing reveals a structural alteration of mirror-image duplicated genes in a genome-editing mouse lineSachiko Miyamoto, Kazushi Aoto, Takuya Hiraide, et al.
Congenital Anomalies|June 29, 2025
Compound heterozygous ZNF335 variants in a patient with microcephaly, refractory epilepsy, and severe developmental delay: A case report and literature reviewKaori Yamoto, Sachiko Miyamoto, Kosuke Yamada, et al.
BMC Neurology|October 24, 2024
CLCN2-related leukoencephalopathy with novel compound heterozygous variants followed with magnetic resonance imaging over 17 years: a case reportMasayuki Ohira, Hirotomo Saitsu, Mitsuko Nakashima, et al.
Pageof 21