1. EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus
- Author
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Hoefsloot, L.H., Roux, A.F., Bitner-Glindzicz, M., Admiraal, R.J., Kremer, H., Wuyts, Wim, EMQN, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), UCL Institute of Child Health, and University College of London [London] (UCL)
- Subjects
Pediatrics ,medicine.medical_specialty ,[SDV]Life Sciences [q-bio] ,Best practice ,Mutation, Missense ,Locus (genetics) ,DCN PAC - Perception action and control ,Deafness ,Meeting Report ,Bioinformatics ,Connexins ,Genomic disorders and inherited multi-system disorders [IGMD 3] ,03 medical and health sciences ,Connexin 30 ,otorhinolaryngologic diseases ,Genetics ,medicine ,Humans ,Molecular diagnostic techniques ,Genetic Testing ,Molecular Biology ,ComputingMilieux_MISCELLANEOUS ,Genetics (clinical) ,Sequence Deletion ,030304 developmental biology ,Genetic testing ,0303 health sciences ,medicine.diagnostic_test ,business.industry ,030305 genetics & heredity ,Diagnostic test ,Genetics and epigenetic pathways of disease Plasticity and memory [NCMLS 6] ,Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6] ,3. Good health ,Connexin 26 ,Europe ,Phenotype ,Molecular Diagnostic Techniques ,Genetic Loci ,Mutation ,Practice Guidelines as Topic ,Medical genetics ,Human medicine ,business ,Non syndromic - Abstract
EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus.
- Published
- 2013
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