MANUEL JOSE
DIAZ LLOPIS
CATEDRÁTICO/A DE UNIVERSIDAD
Carmen
Ayuso García
Publicaciones en las que colabora con Carmen Ayuso García (3)
2011
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Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations
Orphanet Journal of Rare Diseases, Vol. 6, Núm. 1
2010
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Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: Large duplications are responsible for usher syndrome
Investigative Ophthalmology and Visual Science, Vol. 51, Núm. 11, pp. 5480-5485
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Microarray-based mutation analysis of 183 Spanish families with Usher syndrome
Investigative Ophthalmology and Visual Science, Vol. 51, Núm. 3, pp. 1311-1317