Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype

Por Hordijk, R., Wierenga, H., Scheffer, H., Leegte, B., Hofstra, R., Stolte-Dijkstra, I.
Publicado em 1999

Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations?

Por Hofstra, R, Elfferich, P, Osinga, J, Verlind, E, Fransen, E, Lopez, P, de Die-Smulders, C E M, Stolte-Dijkstra, I, Buys, C
Publicado em 2002

Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene

Por Deprez, R H Lekanne, Muurling‐Vlietman, J J, Hruda, J, Baars, M J H, Wijnaendts, L C D, Stolte‐Dijkstra, I, Alders, M, van Hagen, J M
Publicado em 2006