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  • G R Vink, Stefan J. White, Strelicija Gabelic, Pancras C.W. Hogendoorn, Martijn H. Breuning, Egbert J. Bakker
  • Biology, Medicine
  • European Journal of Human Genetics
  • 2005 (First Published: 1 April 2005)
  • Multiple osteochondromas (MO) is an autosomal dominant condition, caused by mutations in either the EXT1 or the EXT2 gene. The DNA of a cohort of 35 patients, clinically suspected to be affected withContinue Reading
  • Marion Phylipsen, Supawadee Yamsri, +7 authors Cornelis L Harteveld
  • Medicine, Biology
  • Prenatal diagnosis
  • 2012 (First Published: 1 June 2012)
  • OBJECTIVE The aim of this study was to develop a pyrophosphorolysis-activated polymerization (PAP) assay for non-invasive prenatal diagnosis (NIPD) of β-thalassemia major and sickle-cell diseaseContinue Reading
  • Antoon H van Lierop, Neveen A. T. Hamdy, Martje E. van Egmond, Egbert J. Bakker, Freek G Dikkers, Socrates E Papapoulos
  • Medicine
  • Journal of bone and mineral research : the…
  • 2013 (First Published: 1 April 2013)
  • Van Buchem disease (VBD) is a rare bone sclerosing dysplasia caused by the lack of a regulatory element of the SOST gene, which encodes for sclerostin, an osteocyte-derived negative regulator of boneContinue Reading
  • J N Rouppe van der Voort, Edwin A G van der Vossen, +5 authors Jaap Bakker
  • Biology
  • Theoretical and Applied Genetics
  • 2000 (First Published: 10 November 2000)
  • Abstract Broad-spectrum resistance in potato to the potato cyst nematode (PCN) is commonly regarded as a complex inherited trait. Yet, in this paper we show that, by use of a selected set of PCN testContinue Reading