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

BMC Medical Genomics

Volumn 5, Issue , 2012, Pages

  De Keulenaer, Sarah ^a   Hellemans, Jan ^a,b   Lefever, Steve ^b   Renard, Jean Pierre ^a   De Schrijver, Joachim ^a   Van De Voorde, Hendrik ^b   Tabatabaiefar, Mohammad Amin ^c,d   Van Nieuwerburgh, Filip ^a   Flamez, Daisy ^a   Pattyn, Filip ^b   Scharlaken, Bieke ^a   Deforce, Dieter ^a   Bekaert, Sofie ^a   Van Criekinge, Wim ^a   Vandesompele, Jo ^a,b   Van Camp, Guy ^c   Coucke, Paul ^a,b  

^a GHENT UNIVERSITY   (Belgium)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d AHVAZ JUNDISHAPUR UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Deafness; Genetic diagnostics; Next generation sequencing; PCR based enrichment

Indexed keywords

GENOMIC DNA;

AMPLICON; ANALYZER; ARTICLE; CDH23 GENE; CLINICAL ARTICLE; CONGENITAL DEAFNESS; CONTROLLED STUDY; DNA SEQUENCE; ESPN GENE; ESRRB GENE; EXON; GENE; GENE ACTIVITY; GENE FUNCTION; GENE MUTATION; GENE TECHNOLOGY; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC SCREENING; GJB2 GENE; HUMAN; MOLECULAR DIAGNOSIS; MYO15A GENE; MYO7A GENE; NEXT GENERATION SEQUENCING TECHNOLOGY; NUCLEOTIDE SEQUENCE; OTOF GENE; PCDH15 GENE; PJVK GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SENSITIVITY ANALYSIS; SLC26A4 GENE; TECTA GENE; TMC1 GENE; TMIE GENE; TMPRSS3 GENE; TRIOBP GENE; UNTRANSLATED REGION; VELOCITY;

DEAFNESS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; POLYMERASE CHAIN REACTION;

EID: 84861142633     PISSN: None     EISSN: 17558794     Source Type: Journal    
DOI: 10.1186/1755-8794-5-17     Document Type: Article

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