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Mitsuko Nakashima

Showing results (51-60 of 208) with videos related to

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Pediatrics International : Official Journal of the Japan Pediatric Society|April 15, 2015
Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCETakahito Wada, Kyoko Takano, Yoshinori Tsurusaki, et al.
American Journal of Medical Genetics. Part A|August 7, 2013
Co-occurrence of 22q11 deletion syndrome and HDR syndromeRyoko Fukai, Nobuhiko Ochi, Akira Murakami, et al.
Journal of Human Genetics|January 25, 2018
Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalitiesJunya Nakajima, Shingo Oana, Tomohiro Sakaguchi, et al.
Journal of the Endocrine Society|December 8, 2021
Retroperitoneal Paraganglioma With Asymptomatic Follicular Lymphoma: A Case ReportKeisuke Kakizawa, Miho Yamashita, Mitsuko Nakashima, et al.
Journal of Human Genetics|November 8, 2007
Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese familyMitsuko Nakashima, Motoi Nakano, Akiyoshi Hirano, et al.
Journal of Human Genetics|January 24, 2022
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicingTakuya Hiraide, Kenji Shimizu, Sachiko Miyamoto, et al.
Brain & Development|October 17, 2016
Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiencyYu Kobayashi, Jun Tohyama, Tomoyuki Akiyama, et al.
Child Neurology Open|October 18, 2021
Novel <i>HSD17B4</i> Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature ReviewAkiyo Yamamoto, Shinobu Fukumura, Yumi Habata, et al.
Journal of Human Genetics|October 18, 2022
A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcomeTakuya Hiraide, Tenpei Akita, Kenji Uematsu, et al.
Journal of Human Genetics|January 9, 2022
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctataTakuya Hiraide, Yohei Masunaga, Akira Honda, et al.
Pageof 21

Showing results (51-60 of 208) with videos related to

Sort By:
Pageof 21
Pediatrics International : Official Journal of the Japan Pediatric Society|April 15, 2015
Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCETakahito Wada, Kyoko Takano, Yoshinori Tsurusaki, et al.
American Journal of Medical Genetics. Part A|August 7, 2013
Co-occurrence of 22q11 deletion syndrome and HDR syndromeRyoko Fukai, Nobuhiko Ochi, Akira Murakami, et al.
Journal of Human Genetics|January 25, 2018
Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalitiesJunya Nakajima, Shingo Oana, Tomohiro Sakaguchi, et al.
Journal of the Endocrine Society|December 8, 2021
Retroperitoneal Paraganglioma With Asymptomatic Follicular Lymphoma: A Case ReportKeisuke Kakizawa, Miho Yamashita, Mitsuko Nakashima, et al.
Journal of Human Genetics|November 8, 2007
Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese familyMitsuko Nakashima, Motoi Nakano, Akiyoshi Hirano, et al.
Journal of Human Genetics|January 24, 2022
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicingTakuya Hiraide, Kenji Shimizu, Sachiko Miyamoto, et al.
Brain & Development|October 17, 2016
Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiencyYu Kobayashi, Jun Tohyama, Tomoyuki Akiyama, et al.
Child Neurology Open|October 18, 2021
Novel <i>HSD17B4</i> Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature ReviewAkiyo Yamamoto, Shinobu Fukumura, Yumi Habata, et al.
Journal of Human Genetics|October 18, 2022
A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcomeTakuya Hiraide, Tenpei Akita, Kenji Uematsu, et al.
Journal of Human Genetics|January 9, 2022
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctataTakuya Hiraide, Yohei Masunaga, Akira Honda, et al.
Pageof 21