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Mitsuko Nakashima

Showing results (71-80 of 208) with videos related to

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Journal of Human Genetics|May 27, 2016
De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal refluxAtsushi Fujita, Bertrand Isidor, Hugues Piloquet, et al.
Brain & Development|June 7, 2021
Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylationTakuya Hiraide, Yoshinao Wada, Tomoko Matsubayashi, et al.
Nature Genetics|August 17, 2010
A genome-wide association study identifies four susceptibility loci for keloid in the Japanese populationMitsuko Nakashima, Suyoun Chung, Atsushi Takahashi, et al.
Plos One|April 15, 2020
CCNB2 and AURKA overexpression may cause atypical mitosis in Japanese cortisol-producing adrenocortical carcinoma with TP53 somatic variantAkira Ikeya, Mitsuko Nakashima, Miho Yamashita, et al.
Neurogenetics|June 8, 2014
Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3Mitsuko Nakashima, Hirofumi Kashii, Yoshiko Murakami, et al.
Journal of Human Genetics|January 30, 2015
SPTAN1 encephalopathy: distinct phenotypes and genotypesJun Tohyama, Mitsuko Nakashima, Shin Nabatame, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 22, 2015
Homozygous p.V116* mutation in C12orf65 results in Leigh syndromeEri Imagawa, Aviva Fattal-Valevski, Ori Eyal, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|August 8, 2020
A de novo GABRB2 variant associated with myoclonic status epilepticus and rhythmic high-amplitude delta with superimposed (poly) spikes (RHADS)Aiko Nishikawa, Yui Otani, Susumu Ito, et al.
Journal of Human Genetics|June 26, 2015
Novel compound heterozygous LIAS mutations cause glycine encephalopathyYoshinori Tsurusaki, Ryuta Tanaka, Shino Shimada, et al.
Brain & Development|October 21, 2015
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disordersYu Kobayashi, Jun Tohyama, Mitsuhiro Kato, et al.
Pageof 21

Showing results (71-80 of 208) with videos related to

Sort By:
Pageof 21
Journal of Human Genetics|May 27, 2016
De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal refluxAtsushi Fujita, Bertrand Isidor, Hugues Piloquet, et al.
Brain & Development|June 7, 2021
Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylationTakuya Hiraide, Yoshinao Wada, Tomoko Matsubayashi, et al.
Nature Genetics|August 17, 2010
A genome-wide association study identifies four susceptibility loci for keloid in the Japanese populationMitsuko Nakashima, Suyoun Chung, Atsushi Takahashi, et al.
Plos One|April 15, 2020
CCNB2 and AURKA overexpression may cause atypical mitosis in Japanese cortisol-producing adrenocortical carcinoma with TP53 somatic variantAkira Ikeya, Mitsuko Nakashima, Miho Yamashita, et al.
Neurogenetics|June 8, 2014
Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3Mitsuko Nakashima, Hirofumi Kashii, Yoshiko Murakami, et al.
Journal of Human Genetics|January 30, 2015
SPTAN1 encephalopathy: distinct phenotypes and genotypesJun Tohyama, Mitsuko Nakashima, Shin Nabatame, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 22, 2015
Homozygous p.V116* mutation in C12orf65 results in Leigh syndromeEri Imagawa, Aviva Fattal-Valevski, Ori Eyal, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|August 8, 2020
A de novo GABRB2 variant associated with myoclonic status epilepticus and rhythmic high-amplitude delta with superimposed (poly) spikes (RHADS)Aiko Nishikawa, Yui Otani, Susumu Ito, et al.
Journal of Human Genetics|June 26, 2015
Novel compound heterozygous LIAS mutations cause glycine encephalopathyYoshinori Tsurusaki, Ryuta Tanaka, Shino Shimada, et al.
Brain & Development|October 21, 2015
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disordersYu Kobayashi, Jun Tohyama, Mitsuhiro Kato, et al.
Pageof 21