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Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.
Kurolap A, Kreuder F, Gonzaga-Jauregui C, Duvdevani MP, Harel T, Tammer L, Xin B, Bakhtiari S, Rice J, van Eyk CL, Gecz J, Mah JK, Atkinson D, Cope H, Sullivan JA, Douek AM, Colquhoun D, Henry J, Wlodkowic D, Parman Y, Candayan A, Kocasoy-Orhan E, Ilivitzki A, Soudry S, Leibu R, Glaser F, Sency V; Undiagnosed Diseases Network; Ast G, Shashi V, Fahey MC, Battaloğlu E, Jordanova A, Meiner V, Innes AM, Wang H, Elpeleg O, Kruer MC, Kaslin J, Baris Feldman H. Kurolap A, et al. Among authors: colquhoun d. Am J Hum Genet. 2022 Mar 3;109(3):518-532. doi: 10.1016/j.ajhg.2022.01.004. Epub 2022 Feb 1. Am J Hum Genet. 2022. PMID: 35108495 Free PMC article.
Variability in Intraoperative Opioid and Nonopioid Utilization During Intracranial Surgery: A Multicenter, Retrospective Cohort Study.
Naik BI, Lele AV, Sharma D, Akkermans A, Vlisides PE, Colquhoun DA, Domino KB, Tsang S, Sun E, Dunn LK; Multicenter Perioperative Outcomes Collaborator Group. Naik BI, et al. Among authors: colquhoun da. J Neurosurg Anesthesiol. 2024 Mar 28. doi: 10.1097/ANA.0000000000000960. Online ahead of print. J Neurosurg Anesthesiol. 2024. PMID: 38546217
Novel Textbook Outcomes following emergency laparotomy: Delphi exercise.
Naumann DN, Bhangu A, Brooks A, Martin M, Cotton BA, Khan M, Midwinter MJ, Pearce L, Bowley DM, Holcomb JB, Griffiths EA; BEACON Collaborative. Naumann DN, et al. BJS Open. 2024 Jan 3;8(1):zrad145. doi: 10.1093/bjsopen/zrad145. BJS Open. 2024. PMID: 38284399 Free PMC article.
Factors Associated With Decision to Use and Dosing of Sugammadex in Children: A Retrospective Cross-Sectional Observational Study.
Brown SES, Mentz G, Cassidy R, Wade M, Liu X, Zhong W, DiBello J, Nause-Osthoff R, Kheterpal S, Colquhoun DA; Multicenter Outcomes Group (MPOG) Perioperative Clinical Research Committee. Brown SES, et al. Among authors: colquhoun da. Anesth Analg. 2024 Jan 19. doi: 10.1213/ANE.0000000000006831. Online ahead of print. Anesth Analg. 2024. PMID: 38259183
513 results