M.E. Kalf

Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase

Saskia A.J. Lesnik Oberstein, Marjolein Kriek, Stefan J. White et al. · The American Journal of Human Genetics · 2006 · 201 citations · Full text

Mendelian Disorder, Disease Mechanism, Syndrome Is +10

Comprehensive Detection of Genomic Duplications and Deletions in the DMD Gene, by Use of Multiplex Amplifiable Probe Hybridization

Stefan J. White, M.E. Kalf, Qiang Liu et al. · The American Journal of Human Genetics · 2002 · 176 citations · Full text

Genetic Analysis, Genomic Duplications, Dmd Gene +10

Successful Long-Term Growth Hormone Therapy in a Girl with Haploinsufficiency of the Insulin-Like Growth Factor-I Receptor due to a Terminal 15q26.2->qter Deletion Detected by Multiplex Ligation Probe Amplification

M.J.E. Walenkamp, Sabine M.P.F. de Muinck Keizer‐Schrama, Marianne de Mos et al. · The Journal of Clinical Endocrinology & Metabolism · 2008 · 75 citations · Full text

Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients

Fanyi Zeng, Zhaorui Ren, Shangzhi Huang et al. · Human Mutation · 2007 · 58 citations

Methods to detect CNVs in the human genome

Emmelien Aten, Stefan J. White, M.E. Kalf et al. · Cytogenetic and Genome Research · 2008 · 34 citations

Dna Sequencing, Functional Genomics, Molecular Ecology +15