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Plos Genetics
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June 22, 2017
Integrative analysis of genomic alterations in triple-negative breast cancer in association with homologous recombination deficiency
Masahito Kawazu, Shinya Kojima, Toshihide Ueno, et al.
Diabetes Research and Clinical Practice
|
September 24, 2020
Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance
Jun Hosoe, Fuyuki Miya, Hiroko Kadowaki, et al.
Journal of Human Genetics
|
February 26, 2016
Human genetic variation database, a reference database of genetic variations in the Japanese population
Koichiro Higasa, Noriko Miyake, Jun Yoshimura, et al.
Brain : a Journal of Neurology
|
May 3, 2018
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy
Yujiro Higuchi, Ryuta Okunushi, Taichi Hara, et al.
Angiogenesis
|
July 28, 2022
Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations
Hiroki Hongo, Satoru Miyawaki, Yu Teranishi, et al.
Annals of Neurology
|
March 19, 2016
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2
Yujiro Higuchi, Akihiro Hashiguchi, Junhui Yuan, et al.
Neurobiology of Aging
|
February 6, 2018
Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis
Genki Tohnai, Ryoichi Nakamura, Jun Sone, et al.
Neurobiology of Disease
|
June 24, 2019
Ataxic phenotype with altered Ca<sub>V</sub>3.1 channel property in a mouse model for spinocerebellar ataxia 42
Shunta Hashiguchi, Hiroshi Doi, Misako Kunii, et al.
American Journal of Human Genetics
|
October 15, 2013
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19
Yuji Takahashi, Yoko Fukuda, Jun Yoshimura, et al.
Nature Genetics
|
July 24, 2019
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
Hiroyuki Ishiura, Shota Shibata, Jun Yoshimura, et al.
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of 6
Search research articles
Search
Showing results (41-50 of 52) with videos related to
Sort By:
Page
of 6
Plos Genetics
|
June 22, 2017
Integrative analysis of genomic alterations in triple-negative breast cancer in association with homologous recombination deficiency
Masahito Kawazu, Shinya Kojima, Toshihide Ueno, et al.
Diabetes Research and Clinical Practice
|
September 24, 2020
Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance
Jun Hosoe, Fuyuki Miya, Hiroko Kadowaki, et al.
Journal of Human Genetics
|
February 26, 2016
Human genetic variation database, a reference database of genetic variations in the Japanese population
Koichiro Higasa, Noriko Miyake, Jun Yoshimura, et al.
Brain : a Journal of Neurology
|
May 3, 2018
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy
Yujiro Higuchi, Ryuta Okunushi, Taichi Hara, et al.
Angiogenesis
|
July 28, 2022
Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations
Hiroki Hongo, Satoru Miyawaki, Yu Teranishi, et al.
Annals of Neurology
|
March 19, 2016
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2
Yujiro Higuchi, Akihiro Hashiguchi, Junhui Yuan, et al.
Neurobiology of Aging
|
February 6, 2018
Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis
Genki Tohnai, Ryoichi Nakamura, Jun Sone, et al.
Neurobiology of Disease
|
June 24, 2019
Ataxic phenotype with altered Ca<sub>V</sub>3.1 channel property in a mouse model for spinocerebellar ataxia 42
Shunta Hashiguchi, Hiroshi Doi, Misako Kunii, et al.
American Journal of Human Genetics
|
October 15, 2013
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19
Yuji Takahashi, Yoko Fukuda, Jun Yoshimura, et al.
Nature Genetics
|
July 24, 2019
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
Hiroyuki Ishiura, Shota Shibata, Jun Yoshimura, et al.
Page
of 6