Bioquímica y Biología Molecular y Fisiología
Departamento
Fundación Jiménez Díaz
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Fundación Jiménez Díaz (8)
2016
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Functional characterization of three concomitant MtDNA LHON mutations shows no synergistic effect on mitochondrial activity
PLoS ONE, Vol. 11, Núm. 1
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The effect of supplemental oxygen in obesity hypoventilation syndrome
Journal of Clinical Sleep Medicine, Vol. 12, Núm. 10, pp. 1379-1388
2014
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Early-onset acral basal cell carcinomas in Gorlin syndrome
British Journal of Dermatology, Vol. 171, Núm. 5, pp. 1227-1229
2013
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Molecular evidence of type 2 mosaicism in Gorlin syndrome
British Journal of Dermatology, Vol. 169, Núm. 6, pp. 1342-1345
2012
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Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis
Clinical Genetics, Vol. 81, Núm. 1, pp. 24-28
2003
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Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects
Human Mutation, Vol. 22, Núm. 4, pp. 301-312
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Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations
European Journal of Human Genetics
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VIP and PACAP receptors coupled to adenylyl cyclase in human lung cancer: A study in biopsy specimens
Peptides, Vol. 24, Núm. 3, pp. 429-436