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Alida C Knegt

University of Amsterdam

44

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638

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Prenatal sonographic features can accurately determine parental origin in triploid pregnancies

2020 Prenatal Diagnosis
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The prevalence of genetic diagnoses in fetuses with severe congenital heart defects.

2020 Genetics in Medicine
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Chromosomal abnormalities and copy number variations in fetal left-sided congenital heart defects

2016 Prenatal Diagnosis
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Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.

2015 Journal of Inherited Metabolic Disease
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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)

2014 Prenatal Diagnosis
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Genetic basis of hyperlysinemia

2013 Orphanet Journal of Rare Diseases
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De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome

2013 American Journal of Medical Genetics Part A
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Bloom syndrome in the Netherlands: Clinical review of a national cohort

2013 Tijdschrift Voor Kindergeneeskunde
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Intellectual Disability and Hemizygous GPD2 Mutation

2013 American Journal of Medical Genetics Part A
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Het Bloom-syndroom in Nederland : Klinisch overzicht van een nationaal cohort (Artikelen)

2013 Tijdschrift Voor Kindergeneeskunde
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