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

78 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.
Electronics and biological signal processing.
Tooley MA. Tooley MA. BJA Educ. 2023 Apr;23(4):122-127. doi: 10.1016/j.bjae.2022.12.004. Epub 2023 Feb 8. BJA Educ. 2023. PMID: 36960437 Free PMC article. Review. No abstract available.
Electrical safety, defibrillation and diathermy.
Tooley MA. Tooley MA. BJA Educ. 2023 Mar;23(3):84-91. doi: 10.1016/j.bjae.2022.11.006. Epub 2023 Jan 4. BJA Educ. 2023. PMID: 36844445 Free PMC article. Review. No abstract available.
Electricity, magnetism and circuits.
Tooley MA. Tooley MA. BJA Educ. 2023 Feb;23(2):61-65. doi: 10.1016/j.bjae.2022.11.007. Epub 2022 Dec 29. BJA Educ. 2023. PMID: 36686889 Free PMC article. Review. No abstract available.
'You're kind of left to your own devices': a qualitative focus group study of patients with breast, prostate or blood cancer at a hospital in the South West of England, exploring their engagement with exercise and physical activity during cancer treatment and in the months following standard care.
Smith SK, Wiltshire G, Brown FF, Dhillon H, Osborn M, Wexler S, Beresford M, Tooley MA, Turner JE. Smith SK, et al. Among authors: tooley ma. BMJ Open. 2022 Mar 28;12(3):e056132. doi: 10.1136/bmjopen-2021-056132. BMJ Open. 2022. PMID: 35351718 Free PMC article.
78 results