Anthonie J. van Essen

Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome

Jacopo Celli, Pascal H. G. Duijf, Ben C.J. Hamel et al. · Cell · 1999 · 709 citations · Full text

Eec Syndrome, Mendelian Disorder, Genetic Disorder +8

Mutations in the Pericentrin ( <i>PCNT</i> ) Gene Cause Primordial Dwarfism

Anita Rauch, Christian T. Thiel, Detlev Schindler et al. · Science · 2008 · 392 citations

Biology, Pcnt Results, Developmental Biology +10

Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility

Dewi Astuti, Mark R. Morris, Wendy N. Cooper et al. · Nature Genetics · 2012 · 247 citations

Perlman Syndrome, Somatic Variant, Genetic Disorder +10

High Rate of Mosaicism in Tuberous Sclerosis Complex

Senno Verhoef, Lida Bakker, Anita M.P. Tempelaars et al. · The American Journal of Human Genetics · 1999 · 200 citations · Full text

Tuberous Sclerosis Complex, Cell Division, Genetic Disorder +4

Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy

Edo M Hoogerwaard, Poll A. van der Wouw, Arthur A.M. Wilde et al. · Neuromuscular Disorders · 1999 · 179 citations

Cardiac Muscle, Cardiomyopathy, Heart Failure +6