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Mitsuko Nakashima

Showing results (41-50 of 208) with videos related to

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Human Genome Variation|June 6, 2022
A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal gangliaMarina Hashiguchi, Yukifumi Monden, Yasuyuki Nozaki, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delayRyoko Fukai, Yoko Hiraki, Gen Nishimura, et al.
Journal of Human Genetics|June 27, 2014
Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing lossMitsuko Nakashima, Kyoko Takano, Hitoshi Osaka, et al.
Neurology. Genetics|November 16, 2022
Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter DenovoKazuki Watanabe, Mitsuko Nakashima, Rie Wakatsuki, et al.
Journal of Human Genetics|June 11, 2021
Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variantTakuya Hiraide, Taihei Tanaka, Yohei Masunaga, et al.
Neurogenetics|October 26, 2023
Two novel cases of biallelic SMPD4 variants with brain structural abnormalitiesShintaro Aoki, Kazuki Watanabe, Mitsuhiro Kato, et al.
European Journal of Medical Genetics|November 8, 2019
Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic featuresTokiko Fukuda, Takuya Hiraide, Kaori Yamoto, et al.
Brain & Development|November 27, 2020
Clinical variations of epileptic syndrome associated with PACS2 variantTomoko Mizuno, Rie Miyata, Akira Hojo, et al.
Plos One|September 26, 2013
Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorderEriko Koshimizu, Satoko Miyatake, Nobuhiko Okamoto, et al.
Journal of Human Genetics|June 25, 2021
A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathiesSachiko Miyamoto, Mitsuhiro Kato, Kenji Sugiyama, et al.
Pageof 21

Showing results (41-50 of 208) with videos related to

Sort By:
Pageof 21
Human Genome Variation|June 6, 2022
A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal gangliaMarina Hashiguchi, Yukifumi Monden, Yasuyuki Nozaki, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delayRyoko Fukai, Yoko Hiraki, Gen Nishimura, et al.
Journal of Human Genetics|June 27, 2014
Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing lossMitsuko Nakashima, Kyoko Takano, Hitoshi Osaka, et al.
Neurology. Genetics|November 16, 2022
Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter DenovoKazuki Watanabe, Mitsuko Nakashima, Rie Wakatsuki, et al.
Journal of Human Genetics|June 11, 2021
Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variantTakuya Hiraide, Taihei Tanaka, Yohei Masunaga, et al.
Neurogenetics|October 26, 2023
Two novel cases of biallelic SMPD4 variants with brain structural abnormalitiesShintaro Aoki, Kazuki Watanabe, Mitsuhiro Kato, et al.
European Journal of Medical Genetics|November 8, 2019
Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic featuresTokiko Fukuda, Takuya Hiraide, Kaori Yamoto, et al.
Brain & Development|November 27, 2020
Clinical variations of epileptic syndrome associated with PACS2 variantTomoko Mizuno, Rie Miyata, Akira Hojo, et al.
Plos One|September 26, 2013
Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorderEriko Koshimizu, Satoko Miyatake, Nobuhiko Okamoto, et al.
Journal of Human Genetics|June 25, 2021
A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathiesSachiko Miyamoto, Mitsuhiro Kato, Kenji Sugiyama, et al.
Pageof 21