J. M. Cobben

Epigenotype–phenotype correlations in Silver–Russell syndrome

Emma Wakeling, S. A. Amero, Mariëlle Alders et al. · Journal of Medical Genetics · 2010 · 218 citations · Full text

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

Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5.

G van der Steege, P.M. Grootscholten, J. M. Cobben et al. · PubMed · 1996 · 93 citations

Novel KCNQ1 and HERG missense mutations in Dutch long-QT families

R. J. E. Jongbloed, Arthur A.M. Wilde, J. L. M. C. Geelen et al. · Human Mutation · 1999 · 62 citations

Oculocerebrocutaneous syndrome: report of three additional cases and aetiological considerations

Ute Moog, Christine de Die‐Smulders, J. M. J. Systermans et al. · Clinical Genetics · 1997 · 40 citations