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Satoko Miyatake

Showing results (131-140 of 212) with videos related to

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Annals of Clinical and Translational Neurology|February 5, 2026
TBK1-Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal DementiaTomoyasu Matsubara, Naoki Kihara, Satoko Miyatake, et al.
Arthritis Research & Therapy|June 6, 2019
Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet's diseaseNaomi Tsuchida, Yohei Kirino, Yutaro Soejima, et al.
Journal of Human Genetics|June 20, 2019
Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variantYuri Uchiyama, Chong A Kim, Antonio Carlos Pastorino, et al.
Journal of Human Genetics|November 27, 2023
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disordersYasuhiro Utsuno, Keisuke Hamada, Kohei Hamanaka, et al.
American Journal of Human Genetics|August 13, 2011
Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardationHiroshi Doi, Kunihiro Yoshida, Takao Yasuda, et al.
Clinical Genetics|October 4, 2018
GRIN2D variants in three cases of developmental and epileptic encephalopathyNaomi Tsuchida, Keisuke Hamada, Masaaki Shiina, et al.
Annals of Clinical and Translational Neurology|March 22, 2018
<i>De novo</i> variants in <i>CAMK2A</i> and <i>CAMK2B</i> cause neurodevelopmental disordersTenpei Akita, Kazushi Aoto, Mitsuhiro Kato, et al.
Parkinsonism & Related Disorders|May 29, 2024
Reduced histone H3K4 trimethylation in oral mucosa of patients with DYT-KMT2BNaoto Sugeno, Satoko Kumada, Hirofumi Kashii, et al.
Annals of Neurology|March 14, 2018
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathyMitsuko Nakashima, Mitsuhiro Kato, Kazushi Aoto, et al.
Nature Communications|June 3, 2014
De novo SOX11 mutations cause Coffin-Siris syndromeYoshinori Tsurusaki, Eriko Koshimizu, Hirofumi Ohashi, et al.
Pageof 22

Showing results (131-140 of 212) with videos related to

Sort By:
Pageof 22
Annals of Clinical and Translational Neurology|February 5, 2026
TBK1-Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal DementiaTomoyasu Matsubara, Naoki Kihara, Satoko Miyatake, et al.
Arthritis Research & Therapy|June 6, 2019
Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet's diseaseNaomi Tsuchida, Yohei Kirino, Yutaro Soejima, et al.
Journal of Human Genetics|June 20, 2019
Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variantYuri Uchiyama, Chong A Kim, Antonio Carlos Pastorino, et al.
Journal of Human Genetics|November 27, 2023
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disordersYasuhiro Utsuno, Keisuke Hamada, Kohei Hamanaka, et al.
American Journal of Human Genetics|August 13, 2011
Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardationHiroshi Doi, Kunihiro Yoshida, Takao Yasuda, et al.
Clinical Genetics|October 4, 2018
GRIN2D variants in three cases of developmental and epileptic encephalopathyNaomi Tsuchida, Keisuke Hamada, Masaaki Shiina, et al.
Annals of Clinical and Translational Neurology|March 22, 2018
<i>De novo</i> variants in <i>CAMK2A</i> and <i>CAMK2B</i> cause neurodevelopmental disordersTenpei Akita, Kazushi Aoto, Mitsuhiro Kato, et al.
Parkinsonism & Related Disorders|May 29, 2024
Reduced histone H3K4 trimethylation in oral mucosa of patients with DYT-KMT2BNaoto Sugeno, Satoko Kumada, Hirofumi Kashii, et al.
Annals of Neurology|March 14, 2018
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathyMitsuko Nakashima, Mitsuhiro Kato, Kazushi Aoto, et al.
Nature Communications|June 3, 2014
De novo SOX11 mutations cause Coffin-Siris syndromeYoshinori Tsurusaki, Eriko Koshimizu, Hirofumi Ohashi, et al.
Pageof 22