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

965 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
Huang L, Szymanska K, Jensen VL, Janecke AR, Innes AM, Davis EE, Frosk P, Li C, Willer JR, Chodirker BN, Greenberg CR, McLeod DR, Bernier FP, Chudley AE, Müller T, Shboul M, Logan CV, Loucks CM, Beaulieu CL, Bowie RV, Bell SM, Adkins J, Zuniga FI, Ross KD, Wang J, Ban MR, Becker C, Nürnberg P, Douglas S, Craft CM, Akimenko MA, Hegele RA, Ober C, Utermann G, Bolz HJ, Bulman DE, Katsanis N, Blacque OE, Doherty D, Parboosingh JS, Leroux MR, Johnson CA, Boycott KM. Huang L, et al. Among authors: hegele ra. Am J Hum Genet. 2011 Dec 9;89(6):713-30. doi: 10.1016/j.ajhg.2011.11.005. Am J Hum Genet. 2011. PMID: 22152675 Free PMC article.
Intellectual disability associated with a homozygous missense mutation in THOC6.
Beaulieu CL, Huang L, Innes AM, Akimenko MA, Puffenberger EG, Schwartz C, Jerry P, Ober C, Hegele RA, McLeod DR, Schwartzentruber J; FORGE Canada Consortium; Majewski J, Bulman DE, Parboosingh JS, Boycott KM. Beaulieu CL, et al. Among authors: hegele ra. Orphanet J Rare Dis. 2013 Apr 26;8:62. doi: 10.1186/1750-1172-8-62. Orphanet J Rare Dis. 2013. PMID: 23621916 Free PMC article.
Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
Sawyer SL, Schwartzentruber J, Beaulieu CL, Dyment D, Smith A, Warman Chardon J, Yoon G, Rouleau GA, Suchowersky O, Siu V, Murphy L, Hegele RA, Marshall CR; FORGE Canada Consortium; Bulman DE, Majewski J, Tarnopolsky M, Boycott KM. Sawyer SL, et al. Among authors: hegele ra. Hum Mutat. 2014 Jan;35(1):45-9. doi: 10.1002/humu.22451. Hum Mutat. 2014. PMID: 24108619 Free PMC article.
965 results