An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

Bonnet, Crystel; Riahi, Zied; Chantot-Bastaraud, Sandra; Smagghe, Luce; Letexier, Melanie; Marcaillou, Charles; Lefevre, Gaelle M.; Hardelin, Jean-Pierre; El-Amraoui, Aziz; Singh-Estivalet, Amrit; Mohand-Said, Saddek; Kohl, Susanne; Kurtenbach, Anne; Sliesoraityte, Ieva; Zobor, Ditta; Gherbi, Souad; Testa, Francesco; Simonelli, Francesca; Banfi, Sandro; Fakin, Ana; Glavac, Damjan; Jarc-Vidmar, Martina; Zupan, Andrej; Battelino, Saba; Martorell Sampol, Loreto; Antonia Claveria, Maria; Catala Mora, Jaume; Dad, Shzeena; Moller, Lisbeth B.; Rodriguez Jorge, Jesus; Hawlina, Marko; Auricchio, Alberto; Sahel, Jose-Alain; Marlin, Sandrine; Zrenner, Eberhart; Audo, Isabelle; Petit, Christine

dc.contributor.author	Kohl, Susanne
dc.contributor.author	Kurtenbach, Anne
dc.contributor.author	Sliesoraityte, Ieva
dc.contributor.author	Zobor, Ditta
dc.contributor.author	Zrenner, Eberhart
dc.date.accessioned	2018-08-09T11:41:49Z
dc.date.available	2018-08-09T11:41:49Z
dc.date.issued	2016
dc.identifier.issn	1476-5438
dc.identifier.uri	http://hdl.handle.net/10900/83702
dc.language.iso	en	de_DE
dc.publisher	Nature Publishing Group	de_DE
dc.relation.uri	http://dx.doi.org/10.1038/ejhg.2016.99
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients	de_DE
dc.type	Article	de_DE
utue.quellen.id	20180405102126_00080
utue.publikation.seiten	1730-1738	de_DE
utue.personen.roh	Bonnet, Crystel
utue.personen.roh	Riahi, Zied
utue.personen.roh	Chantot-Bastaraud, Sandra
utue.personen.roh	Smagghe, Luce
utue.personen.roh	Letexier, Melanie
utue.personen.roh	Marcaillou, Charles
utue.personen.roh	Lefevre, Gaelle M.
utue.personen.roh	Hardelin, Jean-Pierre
utue.personen.roh	El-Amraoui, Aziz
utue.personen.roh	Singh-Estivalet, Amrit
utue.personen.roh	Mohand-Said, Saddek
utue.personen.roh	Kohl, Susanne
utue.personen.roh	Kurtenbach, Anne
utue.personen.roh	Sliesoraityte, Ieva
utue.personen.roh	Zobor, Ditta
utue.personen.roh	Gherbi, Souad
utue.personen.roh	Testa, Francesco
utue.personen.roh	Simonelli, Francesca
utue.personen.roh	Banfi, Sandro
utue.personen.roh	Fakin, Ana
utue.personen.roh	Glavac, Damjan
utue.personen.roh	Jarc-Vidmar, Martina
utue.personen.roh	Zupan, Andrej
utue.personen.roh	Battelino, Saba
utue.personen.roh	Martorell Sampol, Loreto
utue.personen.roh	Antonia Claveria, Maria
utue.personen.roh	Catala Mora, Jaume
utue.personen.roh	Dad, Shzeena
utue.personen.roh	Moller, Lisbeth B.
utue.personen.roh	Rodriguez Jorge, Jesus
utue.personen.roh	Hawlina, Marko
utue.personen.roh	Auricchio, Alberto
utue.personen.roh	Sahel, Jose-Alain
utue.personen.roh	Marlin, Sandrine
utue.personen.roh	Zrenner, Eberhart
utue.personen.roh	Audo, Isabelle
utue.personen.roh	Petit, Christine
dcterms.isPartOf.ZSTitelID	European Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	12	de_DE
dcterms.isPartOf.ZS-Volume	24	de_DE
utue.fakultaet	04 Medizinische Fakultät
utue.fakultaet	Sonstige