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Page 1
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease.
Van Haute L, Páleníková P, Tang JX, Nash PA, Simon MT, Pyle A, Oláhová M, Powell CA, Rebelo-Guiomar P, Stover A, Champion M, Deshpande C, Baple EL, Stals KL, Ellard S, Anselem O, Molac C, Petrilli G, Loeuillet L, Grotto S, Attie-Bitach T, Abdenur JE, Taylor RW, Minczuk M. Van Haute L, et al. Among authors: powell ca. EMBO Mol Med. 2024 Nov 20. doi: 10.1038/s44321-024-00172-5. Online ahead of print. EMBO Mol Med. 2024. PMID: 39567835 Free article.
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.
2,014 results