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Mitsuko Nakashima

Showing results (121-130 of 208) with videos related to

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Journal of Human Genetics|March 21, 2018
A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsySato Suzuki-Muromoto, Keisuke Wakusawa, Takuya Miyabayashi, et al.
Journal of Human Genetics|August 9, 2024
Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yieldShogo Furukawa, Mitsuhiro Kato, Akihiko Ishiyama, et al.
Journal of Human Genetics|February 15, 2018
A homozygous NOP14 variant is likely to cause recurrent pregnancy lossToshifumi Suzuki, Mahdiyeh Behnam, Firooze Ronasian, et al.
Brain & Development|October 17, 2016
A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsyTomokazu Kimizu, Yukitoshi Takahashi, Taikan Oboshi, et al.
Internal Medicine (Tokyo, Japan)|June 11, 2019
Novel VRK1 Mutations in a Patient with Childhood-onset Motor Neuron DiseaseGenpei Yamaura, Yuichi Higashiyama, Kaori Kusama, et al.
Journal of Human Genetics|April 5, 2013
Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasiaAritoshi Iida, Nobuhiko Okamoto, Noriko Miyake, et al.
Journal of Human Genetics|September 11, 2015
De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbanceChihiro Ohba, Kazuhiro Haginoya, Hitoshi Osaka, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|February 21, 2019
Quinidine therapy and therapeutic drug monitoring in four patients with KCNT1 mutationsShinsaku Yoshitomi, Yukitoshi Takahashi, Tokito Yamaguchi, et al.
Epilepsia Open|December 8, 2018
<i>PLPBP</i> mutations cause variable phenotypes of developmental and epileptic encephalopathyHiroshi Shiraku, Mitsuko Nakashima, Saoko Takeshita, et al.
Clinical Genetics|March 1, 2021
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencingTakuya Hiraide, Kaori Yamoto, Yohei Masunaga, et al.
Pageof 21

Showing results (121-130 of 208) with videos related to

Sort By:
Pageof 21
Journal of Human Genetics|March 21, 2018
A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsySato Suzuki-Muromoto, Keisuke Wakusawa, Takuya Miyabayashi, et al.
Journal of Human Genetics|August 9, 2024
Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yieldShogo Furukawa, Mitsuhiro Kato, Akihiko Ishiyama, et al.
Journal of Human Genetics|February 15, 2018
A homozygous NOP14 variant is likely to cause recurrent pregnancy lossToshifumi Suzuki, Mahdiyeh Behnam, Firooze Ronasian, et al.
Brain & Development|October 17, 2016
A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsyTomokazu Kimizu, Yukitoshi Takahashi, Taikan Oboshi, et al.
Internal Medicine (Tokyo, Japan)|June 11, 2019
Novel VRK1 Mutations in a Patient with Childhood-onset Motor Neuron DiseaseGenpei Yamaura, Yuichi Higashiyama, Kaori Kusama, et al.
Journal of Human Genetics|April 5, 2013
Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasiaAritoshi Iida, Nobuhiko Okamoto, Noriko Miyake, et al.
Journal of Human Genetics|September 11, 2015
De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbanceChihiro Ohba, Kazuhiro Haginoya, Hitoshi Osaka, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|February 21, 2019
Quinidine therapy and therapeutic drug monitoring in four patients with KCNT1 mutationsShinsaku Yoshitomi, Yukitoshi Takahashi, Tokito Yamaguchi, et al.
Epilepsia Open|December 8, 2018
<i>PLPBP</i> mutations cause variable phenotypes of developmental and epileptic encephalopathyHiroshi Shiraku, Mitsuko Nakashima, Saoko Takeshita, et al.
Clinical Genetics|March 1, 2021
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencingTakuya Hiraide, Kaori Yamoto, Yohei Masunaga, et al.
Pageof 21