Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

2,967 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.
Doi H, Yoshida K, Yasuda T, Fukuda M, Fukuda Y, Morita H, Ikeda S, Kato R, Tsurusaki Y, Miyake N, Saitsu H, Sakai H, Miyatake S, Shiina M, Nukina N, Koyano S, Tsuji S, Kuroiwa Y, Matsumoto N. Doi H, et al. Among authors: matsumoto n. Am J Hum Genet. 2011 Aug 12;89(2):320-7. doi: 10.1016/j.ajhg.2011.07.012. Am J Hum Genet. 2011. PMID: 21835308 Free PMC article.
Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies.
Kondo Y, Koshimizu E, Megarbane A, Hamanoue H, Okada I, Nishiyama K, Kodera H, Miyatake S, Tsurusaki Y, Nakashima M, Doi H, Miyake N, Saitsu H, Matsumoto N. Kondo Y, et al. Among authors: matsumoto n. Am J Med Genet A. 2013 Jul;161A(7):1543-6. doi: 10.1002/ajmg.a.35983. Epub 2013 May 23. Am J Med Genet A. 2013. PMID: 23703728
Screening of the COL2A1 mutation in idiopathic osteonecrosis of the femoral head.
Sakamoto Y, Yamamoto T, Miyake N, Matsumoto N, Iida A, Nakashima Y; Research Committee on Idiopathic Osteonecrosis of the Femoral Head of the Ministry of Health, Labour and Welfare of Japan, Iwamoto Y, Ikegawa S. Sakamoto Y, et al. Among authors: matsumoto n. J Orthop Res. 2017 Apr;35(4):768-774. doi: 10.1002/jor.23300. Epub 2016 May 29. J Orthop Res. 2017. PMID: 27183340 Free article.
De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy.
Sakai Y, Fukai R, Matsushita Y, Miyake N, Saitsu H, Akamine S, Torio M, Sasazuki M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Matsumoto N, Hara T. Sakai Y, et al. Among authors: matsumoto n. Ann Hum Genet. 2016 Jul;80(4):235-40. doi: 10.1111/ahg.12157. Ann Hum Genet. 2016. PMID: 27346735
2,967 results