José Luis
Gómez Skarmeta
Instituto de Salud Carlos III
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Instituto de Salud Carlos III (5)
2020
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Boundary sequences flanking the mouse tyrosinase locus ensure faithful pattern of gene expression
Scientific Reports, Vol. 10, Núm. 1
2015
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Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome
American Journal of Medical Genetics, Part A, Vol. 167, Núm. 6, pp. 1243-1251
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Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape
Scientific Reports, Vol. 5
2012
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Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer
Journal of Medical Genetics, Vol. 49, Núm. 7, pp. 442-450
2011
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Genome-wide CTCF distribution in vertebrates defines equivalent sites that aid the identification of disease-associated genes
Nature Structural and Molecular Biology, Vol. 18, Núm. 6, pp. 708-714