Hilde Van Esch
Center for Human Genetics
University Hospital Leuven
Leuven
Belgium
Name/email consistency: high
- Very early premature ovarian failure in two sisters compound heterozygous for the FMR1 premutation. Van Esch, H., Buekenhout, L., Race, V., Matthijs, G. Eur. J. Med. Genet (2009)
- Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes. Van Esch, H., Jansen, A., Bauters, M., Froyen, G., Fryns, J.P. Am. J. Med. Genet. A (2007)
- The Fragile X premutation: new insights and clinical consequences. Van Esch, H. Eur. J. Med. Genet (2006)