E.K. Bijlsma
Department of Clinical Genetics
Leiden University Medical Center
Leiden
Netherlands
Name/email consistency: high
- Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. Bijlsma, E.K., Gijsbers, A.C., Schuurs-Hoeijmakers, J.H., van Haeringen, A., Fransen van de Putte, D.E., Anderlid, B.M., Lundin, J., Lapunzina, P., Pérez Jurado, L.A., Delle Chiaie, B., Loeys, B., Menten, B., Oostra, A., Verhelst, H., Amor, D.J., Bruno, D.L., van Essen, A.J., Hordijk, R., Sikkema-Raddatz, B., Verbruggen, K.T., Jongmans, M.C., Pfundt, R., Reeser, H.M., Breuning, M.H., Ruivenkamp, C.A. Eur. J. Med. Genet (2009)
- Increased nuchal translucency and split-hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus. Bijlsma, E.K., Knegt, A.C., Bilardo, C.M., Goodman, F.R. Prenat. Diagn. (2005)









