A. van Essen

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

G. Schaaf, Jeroen A. A. Demmers, R. Poot, 2019, Brain : a journal of neurology.

High rate of mosaicism in tuberous sclerosis complex.

S. Verhoef, A. V. D. van den Ouweland, D. Lindhout, 1999, American journal of human genetics.

Natural repair mechanisms in correcting pathogenic mutations in inherited skin disorders

M. Jonkman, A. van Essen, M. Castellanos Nuijts, 2003, Clinical and experimental dermatology.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

M. Reijnders, W. Chung, A. Munnich, 2020, Genetics in Medicine.

Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology.

C. V. van Asperen, F. Beemer, P. Steijlen, 1998, Archives of dermatology.

β‐Glucuronidase deficiency as cause of recurrent hydrops fetalis: the first early prenatal diagnosis by chorionic villus sampling

W. Kleijer, A. van Essen, H. W. V. van Eyndhoven, 1998 .

Beta-glucuronidase deficiency as cause of recurrent hydrops fetalis: the first early prenatal diagnosis by chorionic villus sampling.

W. Kleijer, A. van Essen, H. W. V. van Eyndhoven, 1998, Prenatal diagnosis.

Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer?

P. Steijlen, J. Frank, K. van Spaendonck-Zwarts, 2009, The British journal of dermatology.