V. Garritsen

Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

J. Graham, A. Raams, W. Kleijer, 2001, American journal of human genetics.

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families

H. Mandel, R. Wanders, R. Battini, 2002, Journal of Inherited Metabolic Disease.

Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk

N. Jaspers, A. Raams, W. Kleijer, 2007, Prenatal diagnosis.

Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience

N. Jaspers, A. Raams, W. Kleijer, 2006, Prenatal diagnosis.

Molecular analysis of mutations in DNA polymerase η in xeroderma pigmentosum-variant patients

A. Sarasin, F. Hanaoka, A. Lehmann, 2002, Proceedings of the National Academy of Sciences of the United States of America.

First‐trimester diagnosis of late‐infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis

H. Stroink, P. Taschner, M. Losekoot, 2001, Prenatal diagnosis.

First‐trimester diagnosis of Morquio disease type A

F. Los, V. Garritsen, W. J. Kleijer, 2000, Prenatal diagnosis.

Xeroderma Pigmentosum Group G with Severe Neurological Involvement and Features of Cockayne Syndrome in Infancy

D. Zafeiriou, S. Clarkson, N. Jaspers, 2001, Pediatric Research.

Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia

J. Häberle, W. Kleijer, M. L. T. van der Sterre, 2006, Prenatal diagnosis.