M. C. Maarle

发表

TRIAL BY DUTCH LABORATORIES FOR THE EVALUATION OF NON-INVASIVE PRENATAL TESTING – WOMEN ’ S PERSPECTIVES

D. Oepkes, B. Faas, I. V. Langen, 2016 .

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

H. Smeets, A. Paulussen, A. Haeringen, 2010, European Journal of Human Genetics.

Chapter 4 Mosaic maternal 10 qter deletions are associated with FRA 10 B expansions and may cause false positive NIPT results

D. Smeets, E. Sistermans, F. Sleutels, 2018 .

Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population

H. Meijers-Heijboer, I. B. Mathijssen, L. Henneman, 2018, European Journal of Human Genetics.

Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene

H. Smeets, L. Reneman, F. Bleeker, 2021, Clinical Neurology and Neurosurgery.

Fetal forearm anomalies: prenatal diagnosis, associations and management strategy

S. Cicero, L. Chitty, E. Pajkrt, 2012, Prenatal diagnosis.

Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part II—women's perspectives†

D. Oepkes, B. Faas, K. Lichtenbelt, 2016, Prenatal diagnosis.

Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal

A. Moorman, M. Alders, A. Postma, 2013, Journal of Medical Genetics.

Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene

R. V. van Rijn, E. Pajkrt, C. Bilardo, 2016, Case reports in obstetrics and gynecology.