A.J. van Essen

PRENATAL DIAGNOSIS AND CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY WITH CLOSELY LINKED RFLPs

Egbert Bakker, Nicole Goor, Klaus Wrogemann et al. · The Lancet · 1985 · 376 citations

Pediatrics, Diagnosis, Degenerative Disease +4

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

Emilia K. Bijlsma, A.C.J. Gijsbers, Janneke Schuurs-Hoeijmakers et al. · European Journal of Medical Genetics · 2009 · 292 citations

Normal Individuals, Psychiatry, Syndromic Autism +11

Phenotypic variability of Cat-Eye syndrome.

M J Berends, Gita Tan-Sindhunata, Beike Leegte et al. · PubMed · 2001 · 103 citations

Developmental Anomaly, Ophthalmology, Genetic Disorder +11

Perlman syndrome: Four additional cases and review

Hetty Th. Henneveld, Richard A. van Lingen, Ben C.J. Hamel et al. · American Journal of Medical Genetics · 1999 · 72 citations

Perlman Syndrome, Diagnosis, Pathology +16

Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy

S. M. Schade van Westrum, Edo M Hoogerwaard, Lukas Dekker et al. · Neurology · 2011 · 69 citations