V. H. Garritsen

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.

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.

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.

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

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

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.