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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Muir AM, Gardner JF, van Jaarsveld RH, de Lange IM, van der Smagt JJ, Wilson GN, Dubbs H, Goldberg EM, Zitano L, Bupp C, Martinez J, Srour M, Accogli A, Alhakeem A, Meltzer M, Gropman A, Brewer C, Caswell RC, Montgomery T, McKenna C, McKee S, Powell C, Vasudevan PC, Brady AF, Joss S, Tysoe C, Noh G, Tarnopolsky M, Brady L, Zafar M, Schrier Vergano SA, Murray B, Sawyer L, Hainline BE, Sapp K, DeMarzo D, Huismann DJ, Wentzensen IM, Schnur RE, Monaghan KG, Juusola J, Rhodes L, Dobyns WB, Lecoquierre F, Goldenberg A, Polster T, Axer-Schaefer S, Platzer K, Klöckner C, Hoffman TL, MacArthur DG, O'Leary MC, VanNoy GE, England E, Varghese VC, Mefford HC. Muir AM, et al. Among authors: powell c. Genet Med. 2021 May;23(5):881-887. doi: 10.1038/s41436-020-01076-8. Epub 2021 Jan 20. Genet Med. 2021. PMID: 33473207 Free PMC article.
Mosaic 5p tetrasomy.
Stanley WS, Powell CM, Devine GC, Ellingham T, Samango-Sprouse CA, Vaught DR, Murphy BA, Rosenbaum KN. Stanley WS, et al. Among authors: powell cm. Am J Med Genet. 1993 Mar 15;45(6):774-6. doi: 10.1002/ajmg.1320450623. Am J Med Genet. 1993. PMID: 8456861
Bone health and SATB2-associated syndrome.
Zarate YA, Steinraths M, Matthews A, Smith WE, Sun A, Wilson LC, Brain C, Allgove J, Jacobs B, Fish JL, Powell CM, Wasserman WW, van Karnebeek CD, Wakeling EL, Ma NS. Zarate YA, et al. Among authors: powell cm. Clin Genet. 2018 Mar;93(3):588-594. doi: 10.1111/cge.13121. Epub 2017 Dec 27. Clin Genet. 2018. PMID: 28787087 Review.
Investigating the effects of mobile bottom fishing on benthic carbon processing and storage: a systematic review protocol.
Felgate SL, Aldridge J, Bolam SG, Breimann S, de Borger E, Claes J, Depestele J, Epstein G, Garcia C, Hicks N, Kaiser M, Laverick JH, Lessin G, O'Neill FG, Paradis S, Parker R, Pereira R, Poulton AJ, Powell C, Smeaton C, Snelgrove P, Tiano J, van der Molen J, van de Velde S, Sciberras M. Felgate SL, et al. Among authors: powell c. Environ Evid. 2024 Oct 15;13(1):24. doi: 10.1186/s13750-024-00348-z. Environ Evid. 2024. PMID: 39402692 Free PMC article. Review.
Implementing a Medicines at Transitions Intervention (MaTI) for patients with heart failure: a process evaluation of the Improving the Safety and Continuity Of Medicines management at Transitions of care (ISCOMAT) cluster randomised controlled trial.
Powell C, Ismail H, Breen L, Fylan B, Alderson SL, Gale CP, Gardner P, Silcock J, Cundill B, Farrin A, Mason E, Moreau L, Alldred DP; ISCOMAT Programme Management Team. Powell C, et al. BMC Health Serv Res. 2024 Oct 9;24(1):1210. doi: 10.1186/s12913-024-11487-x. BMC Health Serv Res. 2024. PMID: 39385160 Free PMC article. Clinical Trial.
2,007 results