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

6,377 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.
Schwartzentruber J, Buhas D, Majewski J, Sasarman F, Papillon-Cavanagh S, Thiffault I, Sheldon KM, Massicotte C, Patry L, Simon M, Zare AS, McKernan KJ; FORGE Canada Consortium; Michaud J, Boles RG, Deal CL, Desilets V, Shoubridge EA, Samuels ME. Schwartzentruber J, et al. Among authors: simon m. Hum Mutat. 2014 Nov;35(11):1285-9. doi: 10.1002/humu.22629. Epub 2014 Oct 18. Hum Mutat. 2014. PMID: 25130867
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Smit DL, Mensenkamp AR, Badeloe S, Breuning MH, Simon ME, van Spaendonck KY, Aalfs CM, Post JG, Shanley S, Krapels IP, Hoefsloot LH, van Moorselaar RJ, Starink TM, Bayley JP, Frank J, van Steensel MA, Menko FH. Smit DL, et al. Among authors: simon me. Clin Genet. 2011 Jan;79(1):49-59. doi: 10.1111/j.1399-0004.2010.01486.x. Clin Genet. 2011. PMID: 20618355
Plasma Proteomics Identifies B2M as a Regulator of Pulmonary Hypertension in Heart Failure With Preserved Ejection Fraction.
Jheng JR, DesJardin JT, Chen YY, Huot JR, Bai Y, Cook T, Hibbard LM, Rupp JM, Fisher A, Zhang Y, Duarte JD, Desai AA, Machado RF, Simon MA, Lai YC. Jheng JR, et al. Among authors: simon ma. Arterioscler Thromb Vasc Biol. 2024 May 30. doi: 10.1161/ATVBAHA.123.320270. Online ahead of print. Arterioscler Thromb Vasc Biol. 2024. PMID: 38813697 Free article.
Skeletal Muscle SIRT3 Deficiency Contributes to Pulmonary Vascular Remodeling in Pulmonary Hypertension Due to Heart Failure With Preserved Ejection Fraction.
Jheng JR, Bai Y, Noda K, Huot JR, Cook T, Fisher A, Chen YY, Goncharov DA, Goncharova EA, Simon MA, Zhang Y, Forman DE, Rojas M, Machado RF, Auwerx J, Gladwin MT, Lai YC. Jheng JR, et al. Among authors: simon ma. Circulation. 2024 May 28. doi: 10.1161/CIRCULATIONAHA.124.068624. Online ahead of print. Circulation. 2024. PMID: 38804138 Free article.
6,377 results