Xenómica e Biomedicina
XB5
Hospital Universitario La Fe
Valencia, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitario La Fe (9)
2023
2021
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Spread of a SARS-CoV-2 variant through Europe in the summer of 2020
Nature, Vol. 595, Núm. 7869, pp. 707-712
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The first wave of the COVID-19 epidemic in Spain was associated with early introductions and fast spread of a dominating genetic variant
Nature Genetics, Vol. 53, Núm. 10, pp. 1405-1414
2007
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Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients
Investigative Ophthalmology and Visual Science, Vol. 48, Núm. 3, pp. 985-990
2006
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Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.
Journal of medical genetics, Vol. 43, Núm. 11
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Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.
Human mutation, Vol. 27, Núm. 3, pp. 290-291
2005
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Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration
Molecular Vision, Vol. 11, pp. 922-928
1997
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Putative association of a mutant ROM1 allele with retinitis pigmentosa
Human Genetics, Vol. 99, Núm. 6, pp. 827-830
1995
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Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families
Human Genetics, Vol. 96, Núm. 1, pp. 89-94