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Human Mutation|September 4, 2013
Hypomorphic NOTCH3 alleles do not cause CADASIL in humansJulie W Rutten, Elles M J Boon, Michael K Liem, et al.
Clinical Chemistry|January 27, 2012
Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detectionJessica M E van den Oever, Sahila Balkassmi, E Joanne Verweij, et al.
The Lancet Regional Health. Europe|September 2, 2024
Prenatal cell-free DNA testing of women with pregnancy-associated cancer: a retrospective cross-sectional studyCatharina J Heesterbeek, Vivianne C G Tjan-Heijnen, Joosje H Heimovaara, et al.
American Journal of Obstetrics and Gynecology|December 14, 2023
Fetal fraction of cell-free DNA in noninvasive prenatal testing and adverse pregnancy outcomes: a nationwide retrospective cohort study of 56,110 pregnant womenEllis C Becking, Peter G Scheffer, Jens Henrichs, et al.
Plos One|December 17, 2020
Erratum: Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity centerLotte Kleinendorst, Ozair Abawi, Bibian van der Voorn, et al.
Plos One|May 9, 2020
Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity centerLotte Kleinendorst, Ozair Abawi, Bibian van der Voorn, et al.
Archives of Neurology|January 14, 2009
Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptakeBoukje de Vries, Hafsa Mamsa, Anine H Stam, et al.
Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism|April 30, 2015
APOE ɛ2 is associated with white matter hyperintensity volume in CADASILBenno Gesierich, Christian Opherk, Jonathan Rosand, et al.
Stroke|March 1, 2014
Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASILChristian Opherk, Mariya Gonik, Marco Duering, et al.
Prenatal Diagnosis|October 18, 2016
Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impactDick Oepkes, G C Lieve Page-Christiaens, Caroline J Bax, et al.
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