M. F. Niermeijer

Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)

J. J. P. van de Kamp, M. F. Niermeijer, Kurt Von Figura et al. · Clinical Genetics · 1981 · 216 citations

Poor outcome in Down syndrome fetuses with cardiac anomalies or growth retardation

Marja W. Wessels, Frans J. Los, Ingrid M.E. Frohn-Mulder et al. · American Journal of Medical Genetics Part A · 2002 · 99 citations

Down Syndrome, Developmental Biology, Cardiac Anomalies +14

Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families

L.C. Verhoog, A.M.W. van den Ouweland, E. Berns et al. · European Journal of Cancer · 2001 · 78 citations

Breast Oncology, Somatic Variant, Distinct Brca1/brca2 Mutations +9

Androgen Insensitivity Syndrome (AIS): Emotional Reactions of Parents and Adult Patients to the Clinical Diagnosis of AIS and Its Confirmation by Androgen Receptor Gene Mutation Analysis

F.M.E. Slijper, Petra G. Frets, Annemie L. M. Boehmer et al. · Hormone Research in Paediatrics · 2000 · 76 citations

Apolipoprotein E gene and sporadic frontal lobe dementia

M Stevens, Cornelia M. van Duijn, Peter de Knijff et al. · Neurology · 1997 · 74 citations