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Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population: psychological outcomes and reproductive intentions.
Birnie E, Schuurmans J, Plantinga M, Abbott KM, Fenwick A, Lucassen A, Berger MY, van Langen IM, Ranchor AV. Birnie E, et al. Among authors: schuurmans j. Genet Med. 2021 Sep;23(9):1761-1768. doi: 10.1038/s41436-021-01199-6. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34112999 Free PMC article.
International perspectives on the implementation of reproductive carrier screening.
Delatycki MB, Alkuraya F, Archibald A, Castellani C, Cornel M, Grody WW, Henneman L, Ioannides AS, Kirk E, Laing N, Lucassen A, Massie J, Schuurmans J, Thong MK, van Langen I, Zlotogora J. Delatycki MB, et al. Among authors: schuurmans j. Prenat Diagn. 2020 Feb;40(3):301-310. doi: 10.1002/pd.5611. Epub 2019 Nov 29. Prenat Diagn. 2020. PMID: 31774570 Review.
High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.
Douben HCW, Nellist M, van Unen L, Elfferich P, Kasteleijn E, Hoogeveen-Westerveld M, Louwen J, van Veghel-Plandsoen M, de Valk W, Saris JJ, Hendriks F, Korpershoek E, Hoefsloot LH, van Vliet M, van Bever Y, van de Laar I, Aten E, Lachmeijer AMA, Taal W, van den Bersselaar L, Schuurmans J, Oostenbrink R, van Minkelen R, van Ierland Y, van Ham TJ. Douben HCW, et al. Among authors: schuurmans j. Hum Mutat. 2022 Dec;43(12):2130-2140. doi: 10.1002/humu.24487. Epub 2022 Nov 8. Hum Mutat. 2022. PMID: 36251260 Free PMC article.
Psychometric properties of two implementation measures: Normalization MeAsure Development questionnaire (NoMAD) and organizational readiness for implementing change (ORIC).
Batterham P, Allenhof C, Cerga Pashoja A, Etzelmueller A, Fanaj N, Finch T, Freund J, Hanssen D, Mathiasen K, Piera Jiminez J, Qirjako G, Rapley T, Sacco Y, Samalin L, Schuurmans J, van Genugten C, Vis C. Batterham P, et al. Among authors: schuurmans j. Implement Res Pract. 2024 Apr 28;5:26334895241245448. doi: 10.1177/26334895241245448. eCollection 2024 Jan-Dec. Implement Res Pract. 2024. PMID: 38686322 Free PMC article.
133 results