Instituto Universitario de Tecnologías Biomédicas
Instituto de investigación
Paris Descartes University
París, FranciaPublicaciones en colaboración con investigadores/as de Paris Descartes University (6)
2019
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A Novel Heterozygous Deletion Variant in KLOTHO Gene Leading to Haploinsufficiency and Impairment of Fibroblast Growth Factor 23 Signaling Pathway
Journal of Clinical Medicine, Vol. 8, Núm. 4, pp. 500
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EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome
Blood, Vol. 134, Núm. 3, pp. 277-290
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GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways
Nature Communications, Vol. 10, Núm. 1
2016
2012
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Guidelines for the use and interpretation of assays for monitoring autophagy
Autophagy, Vol. 8, Núm. 4, pp. 445-544