Publications by authors named "Maria Hernández-Marcos"

10Publications

Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.

Int J Mol Sci 2018 Mar 28;19(4). Epub 2018 Mar 28.

Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain.

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http://dx.doi.org/10.3390/ijms19041010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5979369PMC
March 2018

Cornelia de Lange syndrome: Congenital heart disease in 149 patients.

Med Clin (Barc) 2017 Oct 16;149(7):300-302. Epub 2017 Jun 16.

Unidad de Genética Clínica y Genómica Funcional, Departamentos de Farmacología-Fisiología y Servicio de Pediatría del Hospital Clínico Universitario "Lozano Blesa". Facultad de Medicina, Universidad de Zaragoza. Instituto de Investigación Sanitaria (IIS)-Aragón, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)-GCV02, Zaragoza, España. Electronic address:

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http://dx.doi.org/10.1016/j.medcli.2017.03.051DOI Listing
October 2017