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A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).
Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Chakraborty P, Geraghty MT, Major-Cook N, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, Bonney DK, Bottomley SS, Fleming MD, Wynn RF. Wiseman DH, et al. Among authors: powell c. Blood. 2013 Jul 4;122(1):112-23. doi: 10.1182/blood-2012-08-439083. Epub 2013 Apr 3. Blood. 2013. PMID: 23553769 Free PMC article.
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
Chakraborty PK, Schmitz-Abe K, Kennedy EK, Mamady H, Naas T, Durie D, Campagna DR, Lau A, Sendamarai AK, Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, Bonney DK, Bottomley SS, Wynn RF, Laxer RM, Minniti CP, Moppett J, Bordon V, Geraghty M, Joyce PB, Markianos K, Rudner AD, Holcik M, Fleming MD. Chakraborty PK, et al. Among authors: powell c. Blood. 2014 Oct 30;124(18):2867-71. doi: 10.1182/blood-2014-08-591370. Epub 2014 Sep 5. Blood. 2014. PMID: 25193871 Free PMC article.
Leptomeningeal melanoma in childhood.
Makin GW, Eden OB, Lashford LS, Moppett J, Gerrard MP, Davies HA, Powell CV, Campbell AN, Frances H. Makin GW, et al. Among authors: powell cv. Cancer. 1999 Sep 1;86(5):878-86. Cancer. 1999. PMID: 10463989
Refractory testicular germ cell tumors are highly sensitive to the targeting of polycomb pathway demethylases KDM6A and KDM6B.
Shokry D, Khan MW, Powell C, Johnson S, Rennels BC, Boyd RI, Sun Z, Fazal Z, Freemantle SJ, Parker MH, Vieson MD, Samuelson JP, Spinella MJ, Singh R. Shokry D, et al. Among authors: powell c. Res Sq [Preprint]. 2024 Oct 18:rs.3.rs-4986186. doi: 10.21203/rs.3.rs-4986186/v1. Res Sq. 2024. Update in: Cell Commun Signal. 2024 Oct 31;22(1):528. doi: 10.1186/s12964-024-01912-3. PMID: 39483904 Free PMC article. Updated. Preprint.
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
Peron A, D'Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, Accogli A, Andersen EF, Au PYB, Battini R, Beleford D, Bird LM, Bouman A, Bruel AL, Busk ØL, Campeau PM, Capra V, Carlston C, Carmichael J, Chassevent A, Clayton-Smith J, Bamshad MJ, Earl DL, Faivre L, Philippe C, Ferreira P, Graul-Neumann L, Green MJ, Haffner D, Haldipur P, Hanna S, Houge G, Jones WD, Kraus C, Kristiansen BE, Lespinasse J, Low KJ, Lynch SA, Maia S, Mao R, Kalinauskiene R, Melver C, McDonald K, Montgomery T, Morleo M, Motter C, Openshaw AS, Palumbos JC, Parikh AS, Perilla-Young Y, Powell CM, Person R, Desai M, Piard J, Pfundt R, Scala M, Serey-Gaut M, Shears D, Slavotinek A, Suri M, Turner C, Tvrdik T, Weiss K, Wentzensen IM, Zollino M, Hsieh TC; C4RCD Research Group; Telethon Undiagnosed Disease Program (TUDP); University of Washington Center for Mendelian Genomics (UW-CMG); de Vries BBA, Guillemot F, Dobyns WB, Viskochil D, Dias C. Peron A, et al. Among authors: powell cm. Eur J Hum Genet. 2024 Oct 24. doi: 10.1038/s41431-024-01701-z. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39448799
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.
2,012 results