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

712 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.
Shahrour MA, Staretz-Chacham O, Dayan D, Stephen J, Weech A, Damseh N, Pri Chen H, Edvardson S, Mazaheri S, Saada A; NISC Intramural Sequencing; Hershkovitz E, Shaag A, Huizing M, Abu-Libdeh B, Gahl WA, Azem A, Anikster Y, Vilboux T, Elpeleg O, Malicdan MC. Shahrour MA, et al. Among authors: gahl wa. Clin Genet. 2017 May;91(5):690-696. doi: 10.1111/cge.12855. Epub 2016 Oct 12. Clin Genet. 2017. PMID: 27573165 Free PMC article.
NTBC and alkaptonuria.
Anikster Y, Nyhan WL, Gahl WA. Anikster Y, et al. Among authors: gahl wa. Am J Hum Genet. 1998 Sep;63(3):920-1. doi: 10.1086/302027. Am J Hum Genet. 1998. PMID: 9718357 Free PMC article. No abstract available.
CTNS mutations in an American-based population of cystinosis patients.
Shotelersuk V, Larson D, Anikster Y, McDowell G, Lemons R, Bernardini I, Guo J, Thoene J, Gahl WA. Shotelersuk V, et al. Among authors: gahl wa. Am J Hum Genet. 1998 Nov;63(5):1352-62. doi: 10.1086/302118. Am J Hum Genet. 1998. PMID: 9792862 Free PMC article.
Mutations of CTNS causing intermediate cystinosis.
Thoene J, Lemons R, Anikster Y, Mullet J, Paelicke K, Lucero C, Gahl W, Schneider J, Shu SG, Campbell HT. Thoene J, et al. Mol Genet Metab. 1999 Aug;67(4):283-93. doi: 10.1006/mgme.1999.2876. Mol Genet Metab. 1999. PMID: 10444339
CTNS mutations in patients with cystinosis.
Anikster Y, Shotelersuk V, Gahl WA. Anikster Y, et al. Among authors: gahl wa. Hum Mutat. 1999;14(6):454-8. doi: 10.1002/(SICI)1098-1004(199912)14:6<454::AID-HUMU2>3.0.CO;2-H. Hum Mutat. 1999. PMID: 10571941 Review.
The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion.
Touchman JW, Anikster Y, Dietrich NL, Maduro VV, McDowell G, Shotelersuk V, Bouffard GG, Beckstrom-Sternberg SM, Gahl WA, Green ED. Touchman JW, et al. Among authors: gahl wa. Genome Res. 2000 Feb;10(2):165-73. doi: 10.1101/gr.10.2.165. Genome Res. 2000. PMID: 10673275 Free PMC article.
712 results