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

239 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.
Alston CL, Howard C, Oláhová M, Hardy SA, He L, Murray PG, O'Sullivan S, Doherty G, Shield JP, Hargreaves IP, Monavari AA, Knerr I, McCarthy P, Morris AA, Thorburn DR, Prokisch H, Clayton PE, McFarland R, Hughes J, Crushell E, Taylor RW. Alston CL, et al. Among authors: thorburn dr. J Med Genet. 2016 Sep;53(9):634-41. doi: 10.1136/jmedgenet-2015-103576. Epub 2016 Apr 18. J Med Genet. 2016. PMID: 27091925 Free PMC article.
Mitochondrial diseases: beyond the magic circle.
Dahl HH, Thorburn DR. Dahl HH, et al. Among authors: thorburn dr. Am J Med Genet. 2001 Spring;106(1):1-3. doi: 10.1002/ajmg.1427. Am J Med Genet. 2001. PMID: 11579419 No abstract available.
Risk of developing a mitochondrial DNA deletion disorder.
Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmüller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JN, Turnbull DM. Chinnery PF, et al. Among authors: thorburn dr. Lancet. 2004 Aug 14-20;364(9434):592-6. doi: 10.1016/S0140-6736(04)16851-7. Lancet. 2004. PMID: 15313359
Mutations of the mitochondrial ND1 gene as a cause of MELAS.
Kirby DM, McFarland R, Ohtake A, Dunning C, Ryan MT, Wilson C, Ketteridge D, Turnbull DM, Thorburn DR, Taylor RW. Kirby DM, et al. Among authors: thorburn dr. J Med Genet. 2004 Oct;41(10):784-9. doi: 10.1136/jmg.2004.020537. J Med Genet. 2004. PMID: 15466014 Free PMC article. No abstract available.
239 results