Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

5 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
Hamanaka K, Takata A, Uchiyama Y, Miyatake S, Miyake N, Mitsuhashi S, Iwama K, Fujita A, Imagawa E, Alkanaq AN, Koshimizu E, Azuma Y, Nakashima M, Mizuguchi T, Saitsu H, Wada Y, Minami S, Katoh-Fukui Y, Masunaga Y, Fukami M, Hasegawa T, Ogata T, Matsumoto N. Hamanaka K, et al. Among authors: alkanaq an. Hum Mol Genet. 2019 Jul 15;28(14):2319-2329. doi: 10.1093/hmg/ddz066. Hum Mol Genet. 2019. PMID: 30985895
De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies.
Hamanaka K, Sugawara Y, Shimoji T, Nordtveit TI, Kato M, Nakashima M, Saitsu H, Suzuki T, Yamakawa K, Aukrust I, Houge G, Mitsuhashi S, Takata A, Iwama K, Alkanaq A, Fujita A, Imagawa E, Mizuguchi T, Miyake N, Miyatake S, Matsumoto N. Hamanaka K, et al. Eur J Hum Genet. 2019 Mar;27(3):378-383. doi: 10.1038/s41431-018-0289-x. Epub 2018 Nov 28. Eur J Hum Genet. 2019. PMID: 30487643 Free PMC article.
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy.
Hamanaka K, Miyatake S, Koshimizu E, Tsurusaki Y, Mitsuhashi S, Iwama K, Alkanaq AN, Fujita A, Imagawa E, Uchiyama Y, Tawara N, Ando Y, Misumi Y, Okubo M, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Iida A, Nishino I, Matsumoto N. Hamanaka K, et al. Among authors: alkanaq an. Genet Med. 2019 Jul;21(7):1629-1638. doi: 10.1038/s41436-018-0360-6. Epub 2018 Nov 23. Genet Med. 2019. PMID: 30467404 Free article.
Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder.
Nishioka M, Kazuno AA, Nakamura T, Sakai N, Hayama T, Fujii K, Matsuo K, Komori A, Ishiwata M, Watanabe Y, Oka T, Matoba N, Kataoka M, Alkanaq AN, Hamanaka K, Tsuboi T, Sengoku T, Ogata K, Iwata N, Ikeda M, Matsumoto N, Kato T, Takata A. Nishioka M, et al. Among authors: alkanaq an. Nat Commun. 2021 Jun 18;12(1):3750. doi: 10.1038/s41467-021-23453-w. Nat Commun. 2021. PMID: 34145229 Free PMC article.