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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2004 1
2006 3
2007 2
2008 1
2009 1
2010 2
2011 1
2012 3
2013 5
2014 1
2015 3
2016 1
2017 1
2018 4
2019 7
2020 6
2021 2
2022 2
2023 1
2024 2

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42 results

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Page 1
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Colbert BM, Lanting C, Smeal M, Blanton S, Dykxhoorn DM, Tang PC, Getchell RL, Velde H, Fehrmann M, Thorpe R, Chapagain P, Elkhaligy H, Kremer H, Yntema H, Haer-Wigman L, Redfield S, Sun T, Bruijn S, Plomp A, Goderie T, van de Kamp J, Free RH, Wassink-Ruiter JK, Widdershoven J, Vanhoutte E, Rotteveel L, Kriek M, van Dooren M, Hoefsloot L, de Gier HHW; DOOFNL Consortium; Schaefer A, Kolbe D, Azaiez H, Rabie G, Aburayyan A, Kawas M, Kanaan M, Holder J, Usami SI, Chen Z, Dai P, Holt J, Nelson R, Choi BY, Shearer E, Smith RJH, Pennings R, Liu XZ. Colbert BM, et al. Among authors: kriek m. Hum Genet. 2024 Apr 30. doi: 10.1007/s00439-024-02648-3. Online ahead of print. Hum Genet. 2024. PMID: 38691166
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
Rots D, Rooney K, Relator R, Kerkhof J, McConkey H, Pfundt R, Marcelis C, Willemsen MH, van Hagen JM, Zwijnenburg P, Alders M, Õunap K, Reimand T, Fjodorova O, Berland S, Liahjell EB, Bojovic O, Kriek M, Ruivenkamp C, Bonati MT, Brunner HG, Vissers LELM, Sadikovic B, Kleefstra T. Rots D, et al. Among authors: kriek m. Clin Genet. 2024 Jun;105(6):655-660. doi: 10.1111/cge.14498. Epub 2024 Feb 21. Clin Genet. 2024. PMID: 38384171
A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study.
Swen JJ, van der Wouden CH, Manson LE, Abdullah-Koolmees H, Blagec K, Blagus T, Böhringer S, Cambon-Thomsen A, Cecchin E, Cheung KC, Deneer VH, Dupui M, Ingelman-Sundberg M, Jonsson S, Joefield-Roka C, Just KS, Karlsson MO, Konta L, Koopmann R, Kriek M, Lehr T, Mitropoulou C, Rial-Sebbag E, Rollinson V, Roncato R, Samwald M, Schaeffeler E, Skokou M, Schwab M, Steinberger D, Stingl JC, Tremmel R, Turner RM, van Rhenen MH, Dávila Fajardo CL, Dolžan V, Patrinos GP, Pirmohamed M, Sunder-Plassmann G, Toffoli G, Guchelaar HJ; Ubiquitous Pharmacogenomics Consortium. Swen JJ, et al. Among authors: kriek m. Lancet. 2023 Feb 4;401(10374):347-356. doi: 10.1016/S0140-6736(22)01841-4. Lancet. 2023. PMID: 36739136 Clinical Trial.
Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.
Vincenten SCC, Van Der Stoep N, Paulussen ADC, Mul K, Badrising UA, Kriek M, Van Der Heijden OWH, Van Engelen BGM, Voermans NC, De Die-Smulders CEM, Lassche S. Vincenten SCC, et al. Among authors: kriek m. Clin Genet. 2022 Feb;101(2):149-160. doi: 10.1111/cge.14031. Epub 2021 Aug 1. Clin Genet. 2022. PMID: 34297364 Free PMC article. Review.
Technologies for Pharmacogenomics: A Review.
van der Lee M, Kriek M, Guchelaar HJ, Swen JJ. van der Lee M, et al. Among authors: kriek m. Genes (Basel). 2020 Dec 4;11(12):1456. doi: 10.3390/genes11121456. Genes (Basel). 2020. PMID: 33291630 Free PMC article. Review.
Generating evidence for precision medicine: considerations made by the Ubiquitous Pharmacogenomics Consortium when designing and operationalizing the PREPARE study.
van der Wouden CH, Böhringer S, Cecchin E, Cheung KC, Dávila-Fajardo CL, Deneer VHM, Dolžan V, Ingelman-Sundberg M, Jönsson S, Karlsson MO, Kriek M, Mitropoulou C, Patrinos GP, Pirmohamed M, Rial-Sebbag E, Samwald M, Schwab M, Steinberger D, Stingl J, Sunder-Plassmann G, Toffoli G, Turner RM, van Rhenen MH, van Zwet E, Swen JJ, Guchelaar HJ; Ubiquitous Pharmacogenomics Consortium. van der Wouden CH, et al. Among authors: kriek m. Pharmacogenet Genomics. 2020 Aug;30(6):131-144. doi: 10.1097/FPC.0000000000000405. Pharmacogenet Genomics. 2020. PMID: 32317559 Free PMC article.
ATR-16 syndrome: mechanisms linking monosomy to phenotype.
Babbs C, Brown J, Horsley SW, Slater J, Maifoshie E, Kumar S, Ooijevaar P, Kriek M, Dixon-McIver A, Harteveld CL, Traeger-Synodinos J, Wilkie AOM, Higgs DR, Buckle VJ. Babbs C, et al. Among authors: kriek m. J Med Genet. 2020 Jun;57(6):414-421. doi: 10.1136/jmedgenet-2019-106528. Epub 2020 Jan 31. J Med Genet. 2020. PMID: 32005695 Free PMC article.
42 results