GLORIA
BUENO LOZANO
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Centro de Biología Molecular Severo Ochoa
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Centro de Biología Molecular Severo Ochoa (5)
2022
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Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches
International journal of molecular sciences, Vol. 23, Núm. 17
2021
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Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood
Scientific Reports, Vol. 11, Núm. 1
2020
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Evaluating face2gene as a tool to identify cornelia de lange syndrome by facial phenotypes
International Journal of Molecular Sciences, Vol. 21, Núm. 3
2019
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More than one hmg-coa lyase: The classical mitochondrial enzyme plus the peroxisomal and the cytosolic ones
International Journal of Molecular Sciences, Vol. 20, Núm. 24
2014
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Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation
European Journal of Medical Genetics, Vol. 57, Núm. 9, pp. 503-509