Ellen van Beusekom
Radboud University Nijmegen(NL)Radboud University Medical Center(NL)
Publications by Year
Research Areas
RNA Research and Splicing, Cellular transport and secretion, Cleft Lip and Palate Research, dental development and anomalies, Congenital Ear and Nasal Anomalies
Most-Cited Works
- → Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome(2002)684 cited
- → p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation(2001)377 cited
- → Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry(2013)279 cited
- → Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome(2000)270 cited
- → Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan(2012)209 cited
- → A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype(2003)155 cited