Bioquímica y Biología Molecular
Departamento
Hospital Universitario San Cecilio
Granada, EspañaPublicaciones en colaboración con investigadoras/es de Hospital Universitario San Cecilio (5)
2018
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LRRK2 expression is deregulated in fibroblasts and neurons from parkinson patients with mutations in PINK1
Molecular Neurobiology, Vol. 55, Núm. 1, pp. 506-516
2012
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Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus
Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6
2010
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New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism
European Journal of Endocrinology, Vol. 163, Núm. 6, pp. 953-962
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Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis
Proceedings of the National Academy of Sciences of the United States of America, Vol. 107, Núm. 7, pp. 3105-3110
2007
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The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities
Diabetic Medicine, Vol. 24, Núm. 7, pp. 707-713