Merel van Maarle

Dimeric Inhibin A as a Marker for Down's Syndrome in Early Pregnancy

David A. Aitken, Euan M. Wallace, Jennifer A. Crossley et al. · New England Journal of Medicine · 1996 · 182 citations

Diagnosis of Apert syndrome in the second‐trimester using 2D and 3D ultrasound

Anna L. David, Clare Turnbull, R. K. Scott et al. · Prenatal Diagnosis · 2007 · 61 citations

Jaffe–Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder

Douglas R. Stewart, Hilde Brems, Alicia Gomes et al. · Genetics in Medicine · 2013 · 50 citations · Full text

Type 1, Molecular Analyses, Neurobiology Of Disease +6

Changing to NIPT as a first-tier screening test and future perspectives: opinions of health professionals

Saskia Tamminga, Rachèl V. van Schendel, Wieke Rommers et al. · Prenatal Diagnosis · 2015 · 33 citations · Full text

RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

Tessa van Dijk, Fred van Ruissen, Bregje Jaeger et al. · JIMD Reports · 2016 · 21 citations · Full text