EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus
| Autor: | Hoefsloot, L.H., Roux, A.F., Bitner-Glindzicz, M., Admiraal, R.J., Kremer, H. |
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| Přispěvatelé: | 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, University College of London [London] (UCL) |
| Rok vydání: | 2013 |
| Předmět: |
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 |
| Zdroj: | European Journal of Human Genetics, 21, 1325-9 European journal of human genetics European Journal of Human Genetics, 21, 11, pp. 1325-9 European Journal of Human Genetics European Journal of Human Genetics, Nature Publishing Group, 2013, 21 (11), pp.1325-1329. ⟨10.1038/ejhg.2013.83⟩ |
| ISSN: | 1018-4813 1476-5438 |
| DOI: | 10.1038/ejhg.2013.83⟩ |
| Popis: | EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus. |
| Databáze: | OpenAIRE |
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