Search Results - "Van de Voorde, Hendrik"
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Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform
Published in BMC medical genomics (18-05-2012)“…Hereditary hearing loss (HL) can originate from mutations in one of many genes involved in the complex process of hearing. Identification of the genetic…”
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Epigenetic markers in circulating cell‐free DNA as prognostic markers for survival of castration‐resistant prostate cancer patients
Published in The Prostate (01-04-2018)“…Background : Noninvasive biomarkers to guide personalized treatment for castration‐resistant prostate cancer (CRPC) are needed. In this study, we analyzed…”
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Spectral Prediction Features as a Solution for the Search Space Size Problem in Proteogenomics
Published in Molecular & cellular proteomics (01-01-2021)“…Proteogenomics approaches often struggle with the distinction between true and false peptide-to-spectrum matches as the database size enlarges. However,…”
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Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes
Published in Human mutation (01-09-2011)“…The Marfan (MFS) and Loeys‐Dietz (LDS) syndromes are caused by mutations in the fibrillin‐1 (FBN1) and Transforming Growth Factor Beta Receptor 1 and 2 (TGFBR1…”
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