Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Marie Noda"'
Autor:
Shouichi Ohga, Ryoko Fukai, Marie Noda, Sayaka Okuzono, Naomichi Matsumoto, Yasunari Sakai, Hiroyuki Torisu, Yoshito Ishizaki, Satoshi Akamine, Shunsuke Kanno, Ryutaro Kira, Noriyuki Kaku, Masafumi Sanefuji, Sooyoung Lee, Noriko Miyake
Publikováno v:
Brain and Development. 41:378-381
Background Cardio-facio-cutaneous syndrome (CFCS) is a rare genetic disorder characterized by cardiovascular anomalies, dysmorphic faces, ectodermal abnormalities and developmental delays. Mutations in BRAF and other RAS-MAPK pathway-associated genes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::357207966a0745cbee1aee81a39b78b0
https://doi.org/10.1016/j.braindev.2018.10.012
https://doi.org/10.1016/j.braindev.2018.10.012
Autor:
Takashi Kaneda, Marie Noda, Satoshi Tokunaga, Naohisa Hirahara, Teruaki Muramatsu, Hirotaka Muraoka
Publikováno v:
Journal of Hard Tissue Biology. 26:161-168
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1fa5c90f0448490b75d01873e2c9335e
https://doi.org/10.2485/jhtb.26.161
https://doi.org/10.2485/jhtb.26.161
Publikováno v:
No to hattatsu = Brain and development. 49(3)
A 6-year-old girl experienced nausea and vomiting for 3 weeks and double vision for 1 week prior to her first visit to our hospital. She had bilateral ophthalmoplegia from sixth cranial nerve palsy and papilledema. Her brain MRI showed normal brain p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f0df97925561fae80128a3b6382202b9
https://pubmed.ncbi.nlm.nih.gov/30113799
https://pubmed.ncbi.nlm.nih.gov/30113799
Autor:
Koji Tominaga, Hiroshi Mizumoto, Yoko Yoshikawa, Toshiro Hara, Kyoko Minagawa, Marie Noda, Kanako Kojima-Ishii, Kenji Ihara, Masayuki Ochiai, Tadamune Kinjo, Terumichi Matsuo, Maiko Misaki
Publikováno v:
American journal of medical genetics. Part A. (1)
Sotos syndrome (OMIM #117550) is a congenital syndrome characterized by overgrowth with advanced bone age, macrocephaly, and learning difficulties. Endocrine complications of this syndrome have not yet been fully described in previous reports. We her
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::107b70a123cf2489a4ddc0b47dea3536
https://pubmed.ncbi.nlm.nih.gov/23239432
https://pubmed.ncbi.nlm.nih.gov/23239432