Alexander L.J. Kneppers

Duplications in theDMD gene

Stefan J. White, Annemieke Aartsma‐Rus, Kevin M. Flanigan et al. · Human Mutation · 2006 · 158 citations

Familial Paget's disease in The Netherlands: Occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations

Elisabeth M. W. Eekhoff, Marcel Karperien, Daniel Houtsma et al. · Arthritis & Rheumatism · 2004 · 103 citations · Full text

Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family

Ieke B. Ginjaar, Alexander L.J. Kneppers, Jan-Douwe M v d Meulen et al. · European Journal of Human Genetics · 2000 · 87 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

Diagnostic <b>Notch3</b> sequence analysis in CADASIL: Three new mutations in Dutch patients

Saskia A.J. Lesnik Oberstein, Michel D. Ferrari, Egbert Bakker et al. · Neurology · 1999 · 79 citations

New Mutations, Mendelian Disorder, Genetic Disorder +14

Diagnosis of Duchenne and Becker Muscular Dystrophies by Polymerase Chain Reaction

Jeffrey S. Chamberlain, Joel R. Chamberlain, Raymond G. Fenwick et al. · JAMA · 1992 · 75 citations

Polymerase Chain Reaction, Genetic Testing, Multiplex Method +15