European journal of human genetics : EJHG, 2013-11, Vol.21 (11), p.1325-1329
2013
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Details
- Autor(en) / Beteiligte
- Titel
- EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus
- Ist Teil von
- European journal of human genetics : EJHG, 2013-11, Vol.21 (11), p.1325-1329
- Ort / Verlag
- England: Nature Publishing Group
- Erscheinungsjahr
- 2013
- Quelle
- MEDLINE
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1018-4813, 1476-5438eISSN: 1476-5438DOI: 10.1038/ejhg.2013.83Titel-ID: cdi_swepub_primary_oai_DiVA_org_uu_223937
- Format
- –
- Schlagworte
- Best practice, Clinical Genetics, Connexin 26, Connexin 30, Connexins - genetics, Deafness - genetics, Diagnostic tests, Europe, Genes, Genetic Loci - genetics, Genetic Testing, Genetics, Hearing loss, Humans, Klinisk genetik, Laboratories, Life Sciences, Medical screening, Meeting Report, Molecular Biology, Molecular Diagnostic Techniques, Mutation, Mutation - genetics, Mutation, Missense - genetics, Phenotype, Practice Guidelines as Topic, Sequence Deletion - genetics