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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.
"People don't have the answers": A qualitative exploration of the experiences of young people with Long COVID.
Newlands F, Lewis C, d'Oelsnitz A, Pinto Pereira SM, Stephenson T, Chalder T, Coughtrey A, Dalrymple E, Heyman I, Harnden A, Ford T, Ladhani SN, Powell C, McOwat K, Bhopal R, Dudley J, Kolasinska P, Muhid MZ, Nugawela M, Rojas NK, Shittu A, Simmons R, Shafran R. Newlands F, et al. Among authors: powell c. Clin Child Psychol Psychiatry. 2024 May 8:13591045241252463. doi: 10.1177/13591045241252463. Online ahead of print. Clin Child Psychol Psychiatry. 2024. PMID: 38718276
Extended optical treatment versus early patching with an intensive patching regimen in children with amblyopia in Europe (EuPatch): a multicentre, randomised controlled trial.
Proudlock FA, Hisaund M, Maconachie G, Papageorgiou E, Manouchehrinia A, Dahlmann-Noor A, Khandelwal P, Self J, Beisse C, Gottlob I; EUPatch study group. Proudlock FA, et al. Lancet. 2024 May 4;403(10438):1766-1778. doi: 10.1016/S0140-6736(23)02893-3. Lancet. 2024. PMID: 38704172 Free article. Clinical Trial.
High-resolution genomics identifies pneumococcal diversity and persistence of vaccine types in children with community-acquired pneumonia in the UK and Ireland.
Rodriguez-Ruiz JP, Xavier BB, Stöhr W, van Heirstraeten L, Lammens C, Finn A, Goossens H, Bielicki JA, Sharland M, Malhotra-Kumar S; PERUKI, GAPRUKI and CAP-IT networks. Rodriguez-Ruiz JP, et al. BMC Microbiol. 2024 Apr 27;24(1):146. doi: 10.1186/s12866-024-03300-w. BMC Microbiol. 2024. PMID: 38678217 Free PMC article.
To mesh or not mesh "apical prolapse," that is the question!
Lin FC, Gilleran JP, Powell CR, Atiemo HO. Lin FC, et al. Among authors: powell cr. Neurourol Urodyn. 2024 Apr 16. doi: 10.1002/nau.25469. Online ahead of print. Neurourol Urodyn. 2024. PMID: 38623999 Review.
1,965 results