Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes

Author:

Baetens Machteld,Van Laer Lut,De Leeneer Kim,Hellemans Jan,De Schrijver Joachim,Van De Voorde Hendrik,Renard Marjolijn,Dietz Hal,Lacro Ronald V.,Menten Björn,Van Criekinge Wim,De Backer Julie,De Paepe Anne,Loeys Bart,Coucke Paul J.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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3. Revised diagnostic criteria for the Marfan syndrome;De Paepe;Am J Med Genet,1996

4. Analysing 454 amplicon resequencing experiments using the modular and database oriented Variant Identification Pipeline;De Schrijver;BMC Bioinformatics,2010

5. Paired-end mapping reveals extensive structural variation in the human genome;Korbel;Science,2007

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