C. V. D. van der Sijs-Bos

Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.

J. Giltay, B. Poll-The, J. Smeitink, 1996, Human heredity.

De novo recurrent germline mutation of theBRCA2 gene in a patient with early onset breast cancer

M. Ausems, R. B. van der Luijt, C. Wárlám-Rodenhuis, 2001, Journal of medical genetics.

MATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME 22 IN A CHILD WITH GENERALIZED MOSAICISM FOR TRISOMY 22

P. Stoutenbeek, G. Christiaens, N. Leschot, 1997, Prenatal diagnosis.

Prenatal identification of a marker chromosome 16 by chromosome microdissection and reverse FISH.

J. Derks, J. Engelen, J. de Pater, 2006, European journal of medical genetics.

Fatal hyperammonaemia due to late-onset ornithine transcarbamylase deficiency.

G. P. Bijvoet, J. Wielders, C. V. D. van der Sijs-Bos, 2016, The Netherlands journal of medicine.