Zobrazeno 1 - 10 of 12 pro vyhledávání: '"Shuji Matsui"'
2
A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8
Autor: Masamune, Sakamoto, Toshihide, Shiiki, Shuji, Matsui, Nobuhiko, Okamoto, Eriko, Koshimizu, Naomi, Tsuchida, Yuri, Uchiyama, Kohei, Hamanaka, Atsushi, Fujita, Satoko, Miyatake, Kazuharu, Misawa, Takeshi, Mizuguchi, Naomichi, Matsumoto
Publikováno v: Journal of human genetics.
Pontocerebellar hypoplasia (PCH) is currently classified into 16 subgroups. Using mostly next-generation sequencing, pathogenic variants have been identified in as many as 24 PCH-associated genes. PCH type 8 (PCH8) is a rare heterogeneous disorder. I
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::200143c2634e8e6d30b8e2e136a69667
https://pubmed.ncbi.nlm.nih.gov/36509868
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5
The K computer Operations: Experiences and Statistics
Autor: Hitoshi Murai, Katsutoshi Takashina, Fumichika Sueyasu, Yuki Taguchi, Mitsuo Yokokawa, Mitsuo Okamoto, Shuji Matsui, Fumiyoshi Shoji, Nobuo Ohgushi, K. Yamamoto, Hiroshi Uchiyama, Toshiyuki Tsukamoto, Daisuke Wakabayashi, Ryuichi Sekizawa, Atsuya Uno
Publikováno v: ICCS
The K computer, released on September 29, 2012, is a large-scale parallel supercomputer system consisting of 82,944 compute nodes. We have been able to resolve a significant number of operation issues since its release. Some system software component
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b8723dcc86ed3bdc8da53906db639ab
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10
Newly identified milder phenotype of peroxisome biogenesis disorder caused by mutated PEX3 gene
Autor: Ayako Honda, Nobuyuki Shimozawa, Shuji Matsui, Masuko Funahashi
Publikováno v: Braindevelopment. 35(9)
We identified the first patient with infantile Refsum disease (IRD), a milder phenotype of peroxisome biogenesis disorder (PBD) caused by a mutated PEX3, and investigated the clinical, molecular and cellular characterization in this patient. The pati
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1569667ddacbda4e70c70e7b30faee7a
https://pubmed.ncbi.nlm.nih.gov/23245813
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Plný text Recenzováno Digitální knihovna AV ČR
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