Pediatría
Departamento
Policlinico S.Orsola-Malpighi
Bolonia, ItaliaPublicaciones en colaboración con investigadoras/es de Policlinico S.Orsola-Malpighi (3)
2023
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Clinical and genetic characteristics of Dent's disease type 1 in Europe
Nephrology Dialysis Transplantation, Vol. 38, Núm. 6, pp. 1497-1507
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Treatment and long-term outcome in primary nephrogenic diabetes insipidus
Nephrology Dialysis Transplantation, Vol. 38, Núm. 10, pp. 2120-2130
2022
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Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study
Journal of Medical Genetics, Vol. 59, Núm. 4, pp. 399-409