GILTZURRUNETAKO GAIXOTASUN HEREDITARIOAK ETA ARRAROAK
Necker-Enfants Malades Hospital
París, FranciaNecker-Enfants Malades Hospital-ko ikertzaileekin lankidetzan egindako argitalpenak (5)
2023
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Bi-allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology
Clinical Genetics, Vol. 103, Núm. 1, pp. 114-118
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Rituximab-associated hypogammaglobulinemia in children with idiopathic nephrotic syndrome: results of an ESPN survey
Pediatric Nephrology, Vol. 38, Núm. 9, pp. 3035-3042
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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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Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study
Nephrology Dialysis Transplantation, Vol. 37, Núm. 12, pp. 2474-2486
2016
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Hyperechogenic kidneys and polyhydramnios associated with HNF1B gene mutation
Pediatric Nephrology, Vol. 31, Núm. 10, pp. 1705-1708