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209 results

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Page 1
Individualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy: A systematic review and individual participant data meta-analysis.
Stevelink R, Al-Toma D, Jansen FE, Lamberink HJ, Asadi-Pooya AA, Farazdaghi M, Cação G, Jayalakshmi S, Patil A, Özkara Ç, Aydın Ş, Gesche J, Beier CP, Stephen LJ, Brodie MJ, Unnithan G, Radhakrishnan A, Höfler J, Trinka E, Krause R; EpiPGX Consortium; Irelli EC, Di Bonaventura C, Szaflarski JP, Hernández-Vanegas LE, Moya-Alfaro ML, Zhang Y, Zhou D, Pietrafusa N, Specchio N, Japaridze G, Beniczky S, Janmohamed M, Kwan P, Syvertsen M, Selmer KK, Vorderwülbecke BJ, Holtkamp M, Viswanathan LG, Sinha S, Baykan B, Altindag E, von Podewils F, Schulz J, Seneviratne U, Viloria-Alebesque A, Karakis I, D'Souza WJ, Sander JW, Koeleman BPC, Otte WM, Braun KPJ. Stevelink R, et al. Among authors: koeleman bpc. EClinicalMedicine. 2022 Nov 11;53:101732. doi: 10.1016/j.eclinm.2022.101732. eCollection 2022 Nov. EClinicalMedicine. 2022. PMID: 36467455 Free PMC article.
Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin.
Boothman I, Clayton LM, McCormack M, Driscoll AM, Stevelink R, Moloney P, Krause R, Kunz WS, Diehl S, O'Brien TJ, Sills GJ, de Haan GJ, Zara F, Koeleman BP, Depondt C, Marson AG, Stefansson H, Stefansson K, Craig J, Johnson MR, Striano P, Lerche H, Furney SJ, Delanty N; Consortium EpiPGX; Sisodiya SM, Cavalleri GL. Boothman I, et al. Front Neurosci. 2023 Sep 8;17:1156362. doi: 10.3389/fnins.2023.1156362. eCollection 2023. Front Neurosci. 2023. PMID: 37790589 Free PMC article.
KBTBD13 is a novel cardiomyopathy gene.
de Winter JM, Bouman K, Strom J, Methawasin M, Jongbloed JDH, van der Roest W, Wijngaarden JV, Timmermans J, Nijveldt R, van den Heuvel F, Kamsteeg EJ, van Engelen BG, Galli R, Bogaards SJP, Boon RA, van der Pijl RJ, Granzier H, Koeleman B, Amin AS, van der Velden J, van Tintelen JP, van den Berg MP, van Spaendonck-Zwarts KY, Voermans NC, Ottenheijm CAC. de Winter JM, et al. Hum Mutat. 2022 Dec;43(12):1860-1865. doi: 10.1002/humu.24499. Epub 2022 Nov 20. Hum Mutat. 2022. PMID: 36335629 Free PMC article.
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Martins Custodio H, Clayton LM, Bellampalli R, Pagni S, Silvennoinen K, Caswell R; Genomics England Research Consortium; Brunklaus A, Guerrini R, Koeleman BPC, Lemke JR, Møller RS, Scheffer IE, Weckhuysen S, Zara F, Zuberi S, Kuchenbaecker K, Balestrini S, Mills JD, Sisodiya SM. Martins Custodio H, et al. Among authors: koeleman bpc. Brain. 2023 Sep 1;146(9):3885-3897. doi: 10.1093/brain/awad111. Brain. 2023. PMID: 37006128 Free PMC article.
Identification of candidate genes for developmental colour agnosia in a single unique family.
Nijboer TCW, Hessel EVS, van Haaften GW, van Zandvoort MJ, van der Spek PJ, Troelstra C, de Kovel CGF, Koeleman BPC, van der Zwaag B, Brilstra EH, Burbach JPH. Nijboer TCW, et al. Among authors: koeleman bpc. PLoS One. 2023 Sep 6;18(9):e0290013. doi: 10.1371/journal.pone.0290013. eCollection 2023. PLoS One. 2023. PMID: 37672513 Free PMC article.
Increased prime edit rates in KCNQ2 and SCN1A via single nicking all-in-one plasmids.
Dirkx N, Weuring WJ, De Vriendt E, Smal N, van de Vondervoort J, van 't Slot R, Koetsier M, Zonnekein N, De Pooter T, Weckhuysen S, Koeleman BPC. Dirkx N, et al. Among authors: koeleman bpc. BMC Biol. 2023 Jul 13;21(1):156. doi: 10.1186/s12915-023-01646-7. BMC Biol. 2023. PMID: 37443005 Free PMC article.
Corrigendum to 'Oral microbiota analyses of Saudi sickle cell anemics with dental caries' International Dental Journal, 73/1, February 2023, Pages 144-150.
Alyousef YM, Alonaizan FA, Alsulaiman AA, Abukabbos H, Aldarwish MI, Alali AA, Almasood NN, Vatte C, Cyrus C, Habara AH, Koeleman BPC. Alyousef YM, et al. Among authors: koeleman bpc. Int Dent J. 2023 Jun;73(3):470. doi: 10.1016/j.identj.2023.03.013. Int Dent J. 2023. PMID: 37201962 Free PMC article. No abstract available.
209 results