Pediatria
Saila
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University of Zurich
Zúrich, SuizaUniversity of Zurich-ko ikertzaileekin lankidetzan egindako argitalpenak (3)
2023
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Treatment and long-term outcome in primary nephrogenic diabetes insipidus
Nephrology Dialysis Transplantation, Vol. 38, Núm. 10, pp. 2120-2130
2021
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Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692
2006
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Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement
American Journal of Human Genetics, Vol. 79, Núm. 5, pp. 949-957