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

320 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.
Jabara HH, Boyden SE, Chou J, Ramesh N, Massaad MJ, Benson H, Bainter W, Fraulino D, Rahimov F, Sieff C, Liu ZJ, Alshemmari SH, Al-Ramadi BK, Al-Dhekri H, Arnaout R, Abu-Shukair M, Vatsayan A, Silver E, Ahuja S, Davies EG, Sola-Visner M, Ohsumi TK, Andrews NC, Notarangelo LD, Fleming MD, Al-Herz W, Kunkel LM, Geha RS. Jabara HH, et al. Among authors: kunkel lm. Nat Genet. 2016 Jan;48(1):74-8. doi: 10.1038/ng.3465. Epub 2015 Dec 7. Nat Genet. 2016. PMID: 26642240 Free PMC article.
Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.
Boyden SE, Salih MA, Duncan AR, White AJ, Estrella EA, Burgess SL, Seidahmed MZ, Al-Jarallah AS, Alkhalidi HM, Al-Maneea WM, Bennett RR, Alshemmari SH, Kunkel LM, Kang PB. Boyden SE, et al. Among authors: kunkel lm. Neurogenetics. 2010 Oct;11(4):449-55. doi: 10.1007/s10048-010-0250-9. Epub 2010 Jul 13. Neurogenetics. 2010. PMID: 20623375 Free PMC article.
Emerging preclinical animal models for FSHD.
Lek A, Rahimov F, Jones PL, Kunkel LM. Lek A, et al. Among authors: kunkel lm. Trends Mol Med. 2015 May;21(5):295-306. doi: 10.1016/j.molmed.2015.02.011. Epub 2015 Mar 20. Trends Mol Med. 2015. PMID: 25801126 Free PMC article. Review.
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, Beggs AH, Kunkel LM, Kang PB. Boyden SE, et al. Among authors: kunkel lm. Neurogenetics. 2012 May;13(2):115-24. doi: 10.1007/s10048-012-0315-z. Epub 2012 Feb 28. Neurogenetics. 2012. PMID: 22371254 Free PMC article.
Human skeletal muscle xenograft as a new preclinical model for muscle disorders.
Zhang Y, King OD, Rahimov F, Jones TI, Ward CW, Kerr JP, Liu N, Emerson CP Jr, Kunkel LM, Partridge TA, Wagner KR. Zhang Y, et al. Among authors: kunkel lm. Hum Mol Genet. 2014 Jun 15;23(12):3180-8. doi: 10.1093/hmg/ddu028. Epub 2014 Jan 22. Hum Mol Genet. 2014. PMID: 24452336 Free PMC article.
320 results