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Author/Creator Okubo, Mariko

1. A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation. (25th February 2015)

Authors:
Okubo, Mariko; Fujita, Atsushi; Saito, Yoshiaki; Komaki, Hirofumi; Ishiyama, Akihiko; Takeshita, Eri; Kojima, Emiko; Koichihara, Reiko; Saito, Takashi; Nakagawa, Eiji; Sugai, Kenji; Yamazaki, Hiroko; Kusaka, Kei; Tanaka, Hiroshi; Miyake, Noriko; Matsumoto, Naomichi; Sasaki, Masayuki
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 5(2015:May)
Page Start:
1100
Record Type:
Journal Article
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2. Case of elderly‐onset multiple acyl‐CoA dehydrogenase deficiency with a novel ETFDH mutation shows progressive muscle weakness and rhabdomyolysis. Issue 2 (12th December 2017)

Authors:
Seino, Yusuke; Nakamura, Takumi; Kawarabayashi, Takeshi; Wakasaya, Yasuhito; Hayashi, Yukiko K.; Okubo, Mariko; Nishino, Ichizo; Shoji, Mikio
Journal:
Neurology and clinical neuroscience
Issue:
Volume 6:Issue 2(2018:Mar.)
Page Start:
39
Record Type:
Journal Article
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4. Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy. Issue 5 (18th March 2019)

Authors:
Nishikawa, Atsuko; Iida, Aritoshi; Hayashi, Shinichiro; Okubo, Mariko; Oya, Yasushi; Yamanaka, Gaku; Takahashi, Ikuko; Nonaka, Ikuya; Noguchi, Satoru; Nishino, Ichizo
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 7:Issue 5(2019)
Page Start:
n/a
Record Type:
Journal Article
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7. Whole genome sequencing of 45 Japanese patients with intellectual disability. Issue 5 (24th February 2021)

Authors:
Abe‐Hatano, Chihiro; Iida, Aritoshi; Kosugi, Shunichi; Momozawa, Yukihide; Terao, Chikashi; Ishikawa, Keiko; Okubo, Mariko; Hachiya, Yasuo; Nishida, Hiroya; Nakamura, Kazuyuki; Miyata, Rie; Murakami, Chie; Takahashi, Kan; Hoshino, Kyoko; Sakamoto, Haruko; Ohta, Sayaka; Kubota, Masaya; Takeshita, ...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 5(2021)
Page Start:
1468
Record Type:
Journal Article
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