Almudena
Ávila Fernández
Almudena Ávila Fernández-rekin lankidetzan egindako argitalpenak (31)
2021
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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)
Scientific Reports
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Scientific Reports, Vol. 11, Núm. 1
2014
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Involvement of LCA5 in leber congenital amaurosis and retinitis pigmentosa in the Spanish population
Ophthalmology, Vol. 121, Núm. 1, pp. 399-407
2013
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High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population
Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1
2010
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Disease: Leber congenital amaurosis
Human Genetics
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Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray
Molecular Vision, Vol. 16, pp. 2550-2558
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Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis
Human Genetics
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Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA)
Human Genetics
2009
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Frequency of ABCA4 mutations in 278 Spanish controls: An insight into the prevalence of autosomal recessive Stargardt disease
British Journal of Ophthalmology, Vol. 93, Núm. 10, pp. 1359-1364
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Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: Identification of 21 novel variants
British Journal of Ophthalmology, Vol. 93, Núm. 5, pp. 614-621
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Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.
Human genetics, Vol. 126, Núm. 2, pp. 341
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Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy.
Human genetics, Vol. 126, Núm. 2, pp. 330
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Novel human pathological mutations. Gene symbol: GUCY2D. Disease: Leber congenital amaurosis.
Human genetics, Vol. 125, Núm. 3, pp. 349
2008
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CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa
Investigative Ophthalmology and Visual Science, Vol. 49, Núm. 6, pp. 2709-2713
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Gene symbol: ABCA4. Disease: Macular dystrophy.
Human genetics, Vol. 124, Núm. 3, pp. 319
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Gene symbol: ABCA4. Disease: Macular dystrophy.
Human genetics, Vol. 123, Núm. 5, pp. 547
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Gene symbol: ABCA4. Disease: Macular dystrophy.
Human genetics, Vol. 124, Núm. 3, pp. 321
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Gene symbol: ABCA4. Disease: Macular dystrophy.
Human genetics, Vol. 123, Núm. 5, pp. 544
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Gene symbol: ABCA4. Disease: Macular dystrophy.
Human genetics, Vol. 123, Núm. 5, pp. 546
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Gene symbol: ABCA4. Disease: Macular dystrophy.
Human genetics, Vol. 124, Núm. 3, pp. 314