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Navegación por Autor Bujakowska, Kinga
Mostrando resultados 1 a 4 de 4
Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
closedAccess | | 15-jun-2011 | A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family | Audo, Isabelle; Bujakowska, Kinga; Tronche, Sophie; Lonjou, Christine; Carpentier, Wassila; Bhattacharya, Shom Shanker CSIC ORCID; Zeitz, Christina | artículo |
openAccess | | feb-2012 | CRB1 mutations in inherited retinal dystrophies | Bujakowska, Kinga; Bhattacharya, Shom Shanker CSIC ORCID; Zeitz, Christina | artículo |
closedAccess | | 18-abr-2008 | Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31 | Wilkie, Susan E.; Václavík, Veronika; Wu, Huimin; Bujakowska, Kinga; Chakarova, Christina; Bhattacharya, Shom Shanker CSIC ORCID; Warren, Martin J.; Hunt, David M. | artículo |
closedAccess | | feb-2021 | WDR34, a candidate gene for non-syndromic rod-cone dystrophy | Solaguren-Beascoa, María; Bujakowska, Kinga; Méjécase, Cécile; Emmenegger, Lisa; Orhan, Elise; Neuillé, Marion; Mohand-Saïd, Saddek; Condroyer, Christel; Lancelot, Marie-Elise; Michiels, Christelle; Demontant, Vanessa; Antonio, Aline; Letexier, Mélanie; Saraiva, Jean-Paul; Lonjou, Christine; Carpentier, Wassila; Léveillard, Thierry; Pierce, Eric A.; Dollfus, Hélène; Sahel, José-Alain; Bhattacharya, Shom Shanker CSIC ORCID; Audo, Isabelle; Zeitz, Christina | artículo |