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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
Factors Associated With End-of-Life Planning in Huntington Disease.
Downing NR, Goodnight S, Chae S, Perlmutter JS, McCormack M, Hahn E, Barton SK, Carlozzi N. Downing NR, et al. Am J Hosp Palliat Care. 2018 Mar;35(3):440-447. doi: 10.1177/1049909117708195. Epub 2017 Jun 28. Am J Hosp Palliat Care. 2018. PMID: 28655280 Free PMC article.
Do ring-necked snakes choose retreat sites based upon thermal preferences?
Cox CL, Logan ML, Bryan O, Kaur D, Leung E, McCormack J, McGinn J, Miller L, Robinson C, Salem J, Scheid J, Warzinski T, Chung AK. Cox CL, et al. J Therm Biol. 2018 Jan;71:232-236. doi: 10.1016/j.jtherbio.2017.11.020. Epub 2017 Dec 2. J Therm Biol. 2018. PMID: 29301695
Remapping the insulin gene/IDDM2 locus in type 1 diabetes.
Barratt BJ, Payne F, Lowe CE, Hermann R, Healy BC, Harold D, Concannon P, Gharani N, McCarthy MI, Olavesen MG, McCormack R, Guja C, Ionescu-Tîrgovişte C, Undlien DE, Rønningen KS, Gillespie KM, Tuomilehto-Wolf E, Tuomilehto J, Bennett ST, Clayton DG, Cordell HJ, Todd JA. Barratt BJ, et al. Diabetes. 2004 Jul;53(7):1884-9. doi: 10.2337/diabetes.53.7.1884. Diabetes. 2004. PMID: 15220214
Impact of centre volume, surgeon volume, surgeon experience and geographic location on reoperation after intramedullary nailing of tibial shaft fractures.
Swiontkowski M, Teague D, Sprague S, Bzovsky S, Heels-Ansdell D, Bhandari M, Schemitsch EH, Sanders DW, Tornetta P, Walter SD; SPRINT Investigators. Swiontkowski M, et al. Can J Surg. 2021 Jul 5;64(4):E371-E376. doi: 10.1503/cjs.004020. Can J Surg. 2021. PMID: 34222771 Free PMC article. Clinical Trial.
14 results