Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform

• Main Authors: De Keulenaer Sarah (Author), Hellemans Jan (Author), Lefever Steve (Author), Renard Jean-Pierre (Author), De Schrijver Joachim (Author), Van de Voorde Hendrik (Author), Tabatabaiefar Mohammad (Author), Van Nieuwerburgh Filip (Author), Flamez Daisy (Author), Pattyn Filip (Author), Scharlaken Bieke (Author), Deforce Dieter (Author), Bekaert Sofie (Author), Van Criekinge Wim (Author), Vandesompele Jo (Author), Van Camp Guy (Author), Coucke Paul (Author)
• פורמט: ספר
• יצא לאור: BMC, 2012-05-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Hereditary hearing loss (HL) can originate from mutations in one of many genes involved in the complex process of hearing. Identification of the genetic defects in patients is currently labor intensive and expensive. While screening...