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Prenatal Diagnosis|August 28, 2010
Aiming at multidisciplinary consensus: what should be detected in prenatal diagnosis?Elisabeth M A Boormans, E Birnie, Alida C Knegt, et al.
American Journal of Medical Genetics. Part A|April 5, 2013
Intellectual disability and hemizygous GPD2 mutationDaniela Q C M Barge-Schaapveld, Rob Ofman, Alida C Knegt, et al.
European Journal of Medical Genetics|December 6, 2011
Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor SyndromeKatalin Szakszon, Enikő Felszeghy, István Csízy, et al.
Prenatal Diagnosis|December 31, 2013
Positive predictive values for detection of trisomies 21, 18 and 13 and termination of pregnancy rates after referral for advanced maternal age, first trimester combined test or ultrasound abnormalities in a national screening programme (2007-2009)Jacqueline E Siljee, Alida C Knegt, Maarten F C M Knapen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 2, 2018
Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening resultsKarin Huijsdens-van Amsterdam, Roy Straver, Merel C van Maarle, et al.
BMJ (Clinical Research Ed.)|June 30, 2005
Selective chromosome analysis in couples with two or more miscarriages: case-control studyMaureen T M Franssen, Johanna C Korevaar, Nico J Leschot, et al.
Prenatal Diagnosis|December 31, 2015
Chromosomal abnormalities and copy number variations in fetal left-sided congenital heart defectsFenna A R Jansen, Mariette J V Hoffer, Christine L van Velzen, et al.
Journal of Inherited Metabolic Disease|April 11, 2015
Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduriaJacob Hagen, Heleen te Brinke, Ronald J A Wanders, et al.
Orphanet Journal of Rare Diseases|April 11, 2013
Genetic basis of hyperlysinemiaSander M Houten, Heleen Te Brinke, Simone Denis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2020
The prevalence of genetic diagnoses in fetuses with severe congenital heart defectsAmber E L van Nisselrooij, Malou A Lugthart, Sally-Ann Clur, et al.
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