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Showing results (41-50 of 53) with videos related to
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Epilepsia
|
July 4, 2015
De novo KCNT1 mutations in early-onset epileptic encephalopathy
Chihiro Ohba, Mitsuhiro Kato, Nobuya Takahashi, et al.
International Journal of Neonatal Screening
|
July 21, 2021
Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan
Tomokazu Kimizu, Shinobu Ida, Kentaro Okamoto, et al.
Human Mutation
|
March 25, 2017
Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties
Junpei Tanigawa, Haruka Mimatsu, Seiji Mizuno, et al.
Journal of Human Genetics
|
August 19, 2011
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome
Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto, et al.
Journal of the Neurological Sciences
|
March 25, 2023
Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome
Shin Nabatame, Junpei Tanigawa, Koji Tominaga, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
February 4, 2022
Burden of seizures and comorbidities in patients with epilepsy: a survey based on the tertiary hospital-based Epilepsy Syndrome Registry in Japan
Yushi Inoue, Shin-Ichiro Hamano, Masaharu Hayashi, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
July 16, 2021
Current medico-psycho-social conditions of patients with West syndrome in Japan
Shinsaku Yoshitomi, Shin-Ichiro Hamano, Masaharu Hayashi, et al.
Brain : a Journal of Neurology
|
October 31, 2022
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15
Afshin Saffari, Melanie Kellner, Catherine Jordan, et al.
American Journal of Human Genetics
|
August 26, 2025
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures
Sankalita Ray Das, Rosie Sullivan, Mischa S G Ruegg, et al.
Journal of Medical Genetics
|
March 8, 2019
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing
Kazuhiro Iwama, Takeshi Mizuguchi, Eri Takeshita, et al.
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of 6
Search research articles
Search
Showing results (41-50 of 53) with videos related to
Sort By:
Page
of 6
Epilepsia
|
July 4, 2015
De novo KCNT1 mutations in early-onset epileptic encephalopathy
Chihiro Ohba, Mitsuhiro Kato, Nobuya Takahashi, et al.
International Journal of Neonatal Screening
|
July 21, 2021
Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan
Tomokazu Kimizu, Shinobu Ida, Kentaro Okamoto, et al.
Human Mutation
|
March 25, 2017
Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties
Junpei Tanigawa, Haruka Mimatsu, Seiji Mizuno, et al.
Journal of Human Genetics
|
August 19, 2011
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome
Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto, et al.
Journal of the Neurological Sciences
|
March 25, 2023
Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome
Shin Nabatame, Junpei Tanigawa, Koji Tominaga, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
February 4, 2022
Burden of seizures and comorbidities in patients with epilepsy: a survey based on the tertiary hospital-based Epilepsy Syndrome Registry in Japan
Yushi Inoue, Shin-Ichiro Hamano, Masaharu Hayashi, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
July 16, 2021
Current medico-psycho-social conditions of patients with West syndrome in Japan
Shinsaku Yoshitomi, Shin-Ichiro Hamano, Masaharu Hayashi, et al.
Brain : a Journal of Neurology
|
October 31, 2022
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15
Afshin Saffari, Melanie Kellner, Catherine Jordan, et al.
American Journal of Human Genetics
|
August 26, 2025
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures
Sankalita Ray Das, Rosie Sullivan, Mischa S G Ruegg, et al.
Journal of Medical Genetics
|
March 8, 2019
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing
Kazuhiro Iwama, Takeshi Mizuguchi, Eri Takeshita, et al.
Page
of 6