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Mariko Okubo

Showing results (11-20 of 28) with videos related to

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Internal Medicine (Tokyo, Japan)|October 21, 2021
A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of TitinYasuteru Sano, Satoko Ota, Mariko Oishi, et al.
Human Genome Variation|May 1, 2020
Duchenne muscular dystrophy-like phenotype in an LGMD2I patient with novel <i>FKRP</i> gene variantsTetsuya Okazaki, Kaori Matsuura, Noriko Kasagi, et al.
Neurology. Genetics|December 22, 2021
<i>TNNI1</i> Mutated in Autosomal Dominant Proximal ArthrogryposisYukako Nishimori, Aritoshi Iida, Masashi Ogasawara, et al.
Molecular Genetics & Genomic Medicine|March 19, 2019
Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathyAtsuko Nishikawa, Aritoshi Iida, Shinichiro Hayashi, et al.
Orphanet Journal of Rare Diseases|September 2, 2017
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in JapanMariko Okubo, Kanako Goto, Hirofumi Komaki, et al.
Modern Rheumatology Case Reports|November 23, 2022
Hepatic veno-occlusive disease accompanied by thrombotic microangiopathy developed during treatment of juvenile dermatomyositis and macrophage activation syndrome: A case reportMariko Mouri, Toru Kanamori, Eriko Tanaka, et al.
Journal of the Neurological Sciences|October 27, 2018
Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2BMariko Okubo, Aritoshi Iida, Shinichiro Hayashi, et al.
Clinical Genetics|January 7, 2025
A Unique Case of MBD5 and CCM2 Deletions Leading to a Severe Neurological Phenotype With Prolonged Status EpilepticusSebastián Silva, Viviana Venegas, Marcela Valenzuela, et al.
Neuromuscular Disorders : NMD|October 27, 2021
Mild form of Danon disease: two case reportsToshio Yasui, Utako Nagaoka, Yasushi Oya, et al.
American Journal of Medical Genetics. Part A|February 26, 2015
A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutationMariko Okubo, Atsushi Fujita, Yoshiaki Saito, et al.
Pageof 3

Showing results (11-20 of 28) with videos related to

Sort By:
Pageof 3
Internal Medicine (Tokyo, Japan)|October 21, 2021
A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of TitinYasuteru Sano, Satoko Ota, Mariko Oishi, et al.
Human Genome Variation|May 1, 2020
Duchenne muscular dystrophy-like phenotype in an LGMD2I patient with novel <i>FKRP</i> gene variantsTetsuya Okazaki, Kaori Matsuura, Noriko Kasagi, et al.
Neurology. Genetics|December 22, 2021
<i>TNNI1</i> Mutated in Autosomal Dominant Proximal ArthrogryposisYukako Nishimori, Aritoshi Iida, Masashi Ogasawara, et al.
Molecular Genetics & Genomic Medicine|March 19, 2019
Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathyAtsuko Nishikawa, Aritoshi Iida, Shinichiro Hayashi, et al.
Orphanet Journal of Rare Diseases|September 2, 2017
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in JapanMariko Okubo, Kanako Goto, Hirofumi Komaki, et al.
Modern Rheumatology Case Reports|November 23, 2022
Hepatic veno-occlusive disease accompanied by thrombotic microangiopathy developed during treatment of juvenile dermatomyositis and macrophage activation syndrome: A case reportMariko Mouri, Toru Kanamori, Eriko Tanaka, et al.
Journal of the Neurological Sciences|October 27, 2018
Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2BMariko Okubo, Aritoshi Iida, Shinichiro Hayashi, et al.
Clinical Genetics|January 7, 2025
A Unique Case of MBD5 and CCM2 Deletions Leading to a Severe Neurological Phenotype With Prolonged Status EpilepticusSebastián Silva, Viviana Venegas, Marcela Valenzuela, et al.
Neuromuscular Disorders : NMD|October 27, 2021
Mild form of Danon disease: two case reportsToshio Yasui, Utako Nagaoka, Yasushi Oya, et al.
American Journal of Medical Genetics. Part A|February 26, 2015
A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutationMariko Okubo, Atsushi Fujita, Yoshiaki Saito, et al.
Pageof 3