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DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
Sommen M, Schrauwen I, Vandeweyer G, Boeckx N, Corneveaux JJ, van den Ende J, Boudewyns A, De Leenheer E, Janssens S, Claes K, Verstreken M, Strenzke N, Predöhl F, Wuyts W, Mortier G, Bitner-Glindzicz M, Moser T, Coucke P, Huentelman MJ, Van Camp G. Sommen M, et al. Among authors: wuyts w. Hum Mutat. 2016 Aug;37(8):812-9. doi: 10.1002/humu.22999. Epub 2016 May 6. Hum Mutat. 2016. PMID: 27068579
Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers.
Lantoine J, Brysse A, Dideberg V, Claes K, Symoens S, Coucke W, Benoit V, Rombout S, De Rycke M, Seneca S, Van Laer L, Wuyts W, Corveleyn A, Van Den Bogaert K, Rydlewski C, Wilkin F, Ravoet M, Fastré E, Capron A, Vandevelde NM. Lantoine J, et al. Among authors: wuyts w. JMIR Med Inform. 2021 Jul 12;9(7):e27980. doi: 10.2196/27980. JMIR Med Inform. 2021. PMID: 34255700 Free PMC article.
Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple osteochondromas.
Jennes I, Entius MM, Van Hul E, Parra A, Sangiorgi L, Wuyts W. Jennes I, et al. Among authors: wuyts w. J Mol Diagn. 2008 Jan;10(1):85-92. doi: 10.2353/jmoldx.2008.070086. Epub 2007 Dec 28. J Mol Diagn. 2008. PMID: 18165274 Free PMC article.
360 results