Anthonie J. van Essen
University Medical Center Groningen(NL)University of Groningen(NL)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Muscle Physiology and Disorders, Skin and Cellular Biology Research, Hedgehog Signaling Pathway Studies
Most-Cited Works
- → Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome(1999)713 cited
- → Mutations in the Pericentrin ( PCNT ) Gene Cause Primordial Dwarfism(2008)393 cited
- → Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility(2012)248 cited
- → High Rate of Mosaicism in Tuberous Sclerosis Complex(1999)200 cited
- → Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy(1999)180 cited
- → Tumor risk in Beckwith–Wiedemann syndrome: A review and meta‐analysis(2005)171 cited
- → Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)