D. Marcus‐Soekarman

Novel Mutations in the BHD Gene and Absence of Loss of Heterozygosity in Fibrofolliculomas of Birt-Hogg-Dubé Patients

Maurice A. M. Van Steensel, Valerie L. R. M. Verstraeten, Jorge Frank et al. · Journal of Investigative Dermatology · 2006 · 86 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Skin changes in oculo‐dento‐digital dysplasia are correlated with C‐terminal truncations of connexin 43

Maaike Vreeburg, Eugene A. de Zwart‐Storm, Meyke Schouten et al. · American Journal of Medical Genetics Part A · 2007 · 60 citations

Medicine, Dermatology, Genetics +12

Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy

Gail C. Jackson, D. Marcus‐Soekarman, Irene Stolte‐Dijkstra et al. · American Journal of Medical Genetics Part A · 2010 · 60 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Novel EBP gene mutations in Conradi–Hünermann–Happle syndrome

Peter M. Steijlen, Michel van Geel, Maaike Vreeburg et al. · British Journal of Dermatology · 2007 · 30 citations

Life Sciences, Genetics, Molecular Genetics +16

Shprintzen‐Goldberg syndrome associated with a novel missense mutation in <i>TGFBR2</i>

Maurice A. M. Van Steensel, Michel van Geel, Lizelotte J. M. T. Parren et al. · Experimental Dermatology · 2007 · 22 citations · Full text

Medicine, Genetics, Molecular Genetics +17