P.M. Grootscholten

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

Johan T. den Dunnen, P.M. Grootscholten, Egbert Bakker et al. · PubMed · 1989 · 505 citations

Life Sciences, Genetics, Molecular Genetics +11

Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy.

J. M. Cobben, Gerrit van der Steege, P.M. Grootscholten et al. · PubMed · 1995 · 217 citations

Life Sciences, Genetics, Molecular Genetics +16

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.

Egbert Bakker, H Veenema, Johan T. den Dunnen et al. · Journal of Medical Genetics · 1989 · 201 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Familial X‐linked myalgia and cramps

Sídney M. Gospe, Reynaldo P. Lazaro, Neil Lava et al. · Neurology · 1989 · 142 citations

Medicine, Genetics, Neurology +10

A deletion hot spot in the Duchenne muscular dystrophy gene

Martin C. Wapenaar, Tim Kievits, K Hart et al. · Genomics · 1988 · 114 citations

Life Sciences, Genetics, Molecular Genetics +9