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Mitsuko Nakashima

Showing results (181-190 of 208) with videos related to

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Brain : a Journal of Neurology|April 19, 2018
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsyAnna Fassio, Alessandro Esposito, Mitsuhiro Kato, et al.
American Journal of Human Genetics|September 3, 2013
De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathyKazuyuki Nakamura, Hirofumi Kodera, Tenpei Akita, et al.
Epilepsia|April 30, 2013
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutationMitsuhiro Kato, Takanori Yamagata, Masaya Kubota, et al.
Journal of Human Genetics|February 7, 2018
Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutationsHiroshi Doi, Shigeru Koyano, Satoko Miyatake, et al.
Genome Medicine|April 26, 2022
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variantsKohei Hamanaka, Noriko Miyake, Takeshi Mizuguchi, et al.
Clinical Genetics|February 9, 2017
Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cystsKazuhiro Iwama, Takeshi Mizuguchi, Jun-Ichi Takanashi, et al.
Epilepsia|May 14, 2013
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathyHirofumi Kodera, Mitsuhiro Kato, Alex S Nord, et al.
Annals of Neurology|November 10, 2018
Biallelic COLGALT1 variants are associated with cerebral small vessel diseaseSatoko Miyatake, Sacha Schneeberger, Norihisa Koyama, et al.
Scientific Reports|June 16, 2017
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvementIkumi Hori, Takanobu Otomo, Mitsuko Nakashima, et al.
American Journal of Human Genetics|September 29, 2015
Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic SyndromeNoriko Miyake, Hiroyasu Tsukaguchi, Eriko Koshimizu, et al.
Pageof 21

Showing results (181-190 of 208) with videos related to

Sort By:
Pageof 21
Brain : a Journal of Neurology|April 19, 2018
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsyAnna Fassio, Alessandro Esposito, Mitsuhiro Kato, et al.
American Journal of Human Genetics|September 3, 2013
De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathyKazuyuki Nakamura, Hirofumi Kodera, Tenpei Akita, et al.
Epilepsia|April 30, 2013
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutationMitsuhiro Kato, Takanori Yamagata, Masaya Kubota, et al.
Journal of Human Genetics|February 7, 2018
Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutationsHiroshi Doi, Shigeru Koyano, Satoko Miyatake, et al.
Genome Medicine|April 26, 2022
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variantsKohei Hamanaka, Noriko Miyake, Takeshi Mizuguchi, et al.
Clinical Genetics|February 9, 2017
Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cystsKazuhiro Iwama, Takeshi Mizuguchi, Jun-Ichi Takanashi, et al.
Epilepsia|May 14, 2013
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathyHirofumi Kodera, Mitsuhiro Kato, Alex S Nord, et al.
Annals of Neurology|November 10, 2018
Biallelic COLGALT1 variants are associated with cerebral small vessel diseaseSatoko Miyatake, Sacha Schneeberger, Norihisa Koyama, et al.
Scientific Reports|June 16, 2017
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvementIkumi Hori, Takanobu Otomo, Mitsuko Nakashima, et al.
American Journal of Human Genetics|September 29, 2015
Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic SyndromeNoriko Miyake, Hiroyasu Tsukaguchi, Eriko Koshimizu, et al.
Pageof 21