Concepedia

Anthonie J. van Essen

AJ

Statistics

Publications

43

Citations

4K

H-Index

33

Active since

1991

Affiliations

University of Groningen(Current)

University Medical Center Groningen

Radboud University Nijmegen

Radboud University Medical Center

Erasmus University Rotterdam

Anthonie J. van Essen is an author at University of Groningen specializing in genetics, life sciences, and genetic disorders.

Publications per year

1991–2019

43

Publications

43

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 · 715 citations · Full text

, , +11

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

Anita Rauch, Christian T. Thiel, Detlev Schindler et al. · Science · 2008 · 397 citations

, , +17

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 · 252 citations

, , +16

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 · 201 citations · Full text

, , +5

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 · 181 citations

, , +13

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