Department of Forensic Science, Pathological Anatomy, Gynaecology and Obstetrics and Paediatrics
Department
University of Genoa
Génova, ItaliaPublications in collaboration with researchers from University of Genoa (7)
2019
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Nature Communications, Vol. 10, Núm. 1
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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352
2017
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Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
Journal of Inherited Metabolic Disease, Vol. 40, Núm. 1, pp. 21-48
2015
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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
Nature Genetics, Vol. 47, Núm. 6, pp. 579-581
2014
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The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics
Electrophoresis, Vol. 35, Núm. 21-22, pp. 3134-3144
2013
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Long-term follow-up and outcome of phenylketonuria patients on sapropterin: A retrospective study
Pediatrics, Vol. 131, Núm. 6