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1 Ergebnisse
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An innovative strategy for the molecular diagnosis of Usher..:
Bonnet, Crystel
;
Riahi, Zied
;
Chantot-Bastaraud, Sandra
...
info:eu-repo/semantics/altIdentifier/doi/10.1038/ejhg.2016.99. , 2016
Link:
https://pasteur.hal.science/pasteur-03215026
RT Journal T1
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients
UL https://suche.suub.uni-bremen.de/peid=base-ftanrparis:oai:HAL:pasteur-03215026v1&Exemplar=1&LAN=DE A1 Bonnet, Crystel A1 Riahi, Zied A1 Chantot-Bastaraud, Sandra A1 Smagghe, Luce A1 Letexier, Mélanie A1 Marcaillou, Charles A1 Lefèvre, Gaëlle A1 Hardelin, Jean-Pierre A1 El-Amraoui, Aziz A1 Singh-Estivalet, Amrit A1 Mohand-Saïd, Saddek A1 Kohl, Susanne A1 Kurtenbach, Anne A1 Sliesoraityte, Ieva A1 Zobor, Ditta A1 Gherbi, Souad A1 Testa, Francesco A1 Simonelli, Francesca A1 Banfi, Sandro A1 Fakin, Ana A1 Glavač, Damjan A1 Jarc-Vidmar, Martina A1 Zupan, Andrej A1 Battelino, Saba A1 Martorell Sampol, Loreto A1 Claveria, Maria Antonia A1 Catala Mora, Jaume A1 Dad, Shzeena A1 Møller, Lisbeth A1 Rodriguez Jorge, Jesus A1 Hawlina, Marko A1 Auricchio, Alberto A1 Sahel, José-Alain A1 Marlin, Sandrine A1 Zrenner, Eberhart A1 Audo, Isabelle A1 Petit, Christine PB HAL CCSD; Nature Publishing Group YR 2016 K1 MESH: Alleles K1 MESH: Comparative Genomic Hybridization K1 MESH: Genetic Testing K1 MESH: Humans K1 MESH: Mutation K1 MESH: Sensitivity and Specificity K1 MESH: Sequence Analysis K1 DNA K1 MESH: Usher Syndromes K1 MESH: Europe K1 MESH: Exome K1 MESH: Extracellular Matrix Proteins K1 MESH: Genes K1 Modifier K1 [SDV]Life Sciences [q-bio] JF info:eu-repo/semantics/altIdentifier/doi/10.1038/ejhg.2016.99 LK http://dx.doi.org/https://pasteur.hal.science/pasteur-03215026 DO https://pasteur.hal.science/pasteur-03215026 SF ELIB - SuUB Bremen
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