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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

184 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
X-linked Thrombocytopenia with Normal Wiskott-Aldrich Syndrome Protein Expression in Lymphocytes and a Novel Wiskott-Aldrich Syndrome Protein Gene Variant: A Case Report and Brief Review of the Literature.
Hamanaka S, Uchiyama T, Kaname T, Matsui M, Yoshihashi H, Makimoto A, Yuza Y, Ishiguro A. Hamanaka S, et al. Among authors: kaname t. J Pediatr Clin Pract. 2024 Oct 10;14:200128. doi: 10.1016/j.jpedcp.2024.200128. eCollection 2024 Dec. J Pediatr Clin Pract. 2024. PMID: 39629200 Free PMC article.
Correction: Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome.
Orimo K, Mitsui J, Matsukawa T, Tanaka M, Nomoto J, Ishiura H, Omae Y, Kawai Y, Tokunaga K; NCBN Controls WGS Consortium; Toda T, Tsuji S. Orimo K, et al. J Hum Genet. 2024 Dec;69(12):679-680. doi: 10.1038/s10038-024-01293-y. J Hum Genet. 2024. PMID: 39304720 Free PMC article. No abstract available.
Artificial intelligence in medical genomics.
Kamatani Y, Kaname T. Kamatani Y, et al. Among authors: kaname t. J Hum Genet. 2024 Oct;69(10):475. doi: 10.1038/s10038-024-01282-1. Epub 2024 Aug 27. J Hum Genet. 2024. PMID: 39192016 No abstract available.
Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population.
Inamori KI, Nakamura K, Shishido F, Hsu JC, Nagafuku M, Nitta T, Ikeda J, Yoshimura H, Kodaira M, Tsuchida N, Matsumoto N, Uemura S, Ohno S, Manabe N, Yamaguchi Y, Togayachi A, Aoki-Kinoshita KF, Nishihara S, Furukawa JI, Kaname T, Nakamura M, Shimohata T, Tadaka S, Shirota M, Kinoshita K, Nakamura Y, Ohno I, Sekijima Y, Inokuchi JI. Inamori KI, et al. Among authors: kaname t. Front Neurosci. 2024 Jul 31;18:1437668. doi: 10.3389/fnins.2024.1437668. eCollection 2024. Front Neurosci. 2024. PMID: 39145292 Free PMC article.
Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome.
Orimo K, Mitsui J, Matsukawa T, Tanaka M, Nomoto J, Ishiura H, Omae Y, Kawai Y, Tokunaga K; NCBN Controls WGS Consortium; Toda T, Tsuji S. Orimo K, et al. J Hum Genet. 2024 Dec;69(12):613-621. doi: 10.1038/s10038-024-01266-1. Epub 2024 Jul 18. J Hum Genet. 2024. PMID: 39020124 Free PMC article.
184 results