Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome

por Le Guédard, Sandie, Faugère, Valérie, Malcolm, Sue, Claustres, Mireille, Roux, Anne-Françoise
Publicado 2007

The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort

por García-García, Gema, Besnard, Thomas, Baux, David, Vaché, Christel, Aller, Elena, Malcolm, Sue, Claustres, Mireille, Millan, Jose M., Roux, Anne-Françoise
Publicado 2013

Experience of targeted Usher exome sequencing as a clinical test

por Besnard, Thomas, García-García, Gema, Baux, David, Vaché, Christel, Faugère, Valérie, Larrieu, Lise, Léonard, Susana, Millan, Jose M, Malcolm, Sue, Claustres, Mireille, Roux, Anne-Françoise
Publicado 2014