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

47 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
L-carnitine supplementation for muscle weakness and fatigue in children with neurofibromatosis type 1: A Phase 2a clinical trial.
Vasiljevski ER, Burns J, Bray P, Donlevy G, Mudge AJ, Jones KJ, Summers MA, Biggin A, Munns CF, McKay MJ, Baldwin JN, Little DG, Schindeler A. Vasiljevski ER, et al. Among authors: biggin a. Am J Med Genet A. 2021 Oct;185(10):2976-2985. doi: 10.1002/ajmg.a.62392. Epub 2021 Jun 21. Am J Med Genet A. 2021. PMID: 34155781 Free PMC article. Clinical Trial.
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.
Dasgupta D, Wee MJ, Reyes M, Li Y, Simm PJ, Sharma A, Schlingmann KP, Janner M, Biggin A, Lazier J, Gessner M, Chrysis D, Tuchman S, Baluarte HJ, Levine MA, Tiosano D, Insogna K, Hanley DA, Carpenter TO, Ichikawa S, Hoppe B, Konrad M, Sävendahl L, Munns CF, Lee H, Jüppner H, Bergwitz C. Dasgupta D, et al. Among authors: biggin a. J Am Soc Nephrol. 2014 Oct;25(10):2366-75. doi: 10.1681/ASN.2013101085. Epub 2014 Apr 3. J Am Soc Nephrol. 2014. PMID: 24700880 Free PMC article.
Osteogenesis imperfecta: diagnosis and treatment.
Biggin A, Munns CF. Biggin A, et al. Curr Osteoporos Rep. 2014 Sep;12(3):279-88. doi: 10.1007/s11914-014-0225-0. Curr Osteoporos Rep. 2014. PMID: 24964776 Review.
Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.
Munns CF, Fahiminiya S, Poudel N, Munteanu MC, Majewski J, Sillence DO, Metcalf JP, Biggin A, Glorieux F, Fassier F, Rauch F, Hinsdale ME. Munns CF, et al. Among authors: biggin a. Am J Hum Genet. 2015 Jun 4;96(6):971-8. doi: 10.1016/j.ajhg.2015.04.017. Epub 2015 May 28. Am J Hum Genet. 2015. PMID: 26027496 Free PMC article.
47 results