Publicaciones en las que colabora con LEIRE MADARIAGA DOMÍNGUEZ (7)
2024
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Genetic profile of a large Spanish cohort with hypercalcemia
Frontiers in Endocrinology, Vol. 15
2023
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Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3
Scientific reports, Vol. 13, Núm. 1, pp. 12587
2021
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Acidosis tubular renal distal hereditaria: correlación genotípica, evolución a largo plazo y nuevas perspectivas terapéuticas
Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia, Vol. 41, Núm. 4, pp. 383-390
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Five patients with disorders of calcium metabolism presented with GCM2 gene variants
Scientific Reports, Vol. 11, Núm. 1
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Hereditary distal renal tubular acidosis: Genotypic correlation, evolution to long term, and new therapeutic perspectives
Nefrologia, Vol. 41, Núm. 4, pp. 383-390
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Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis
Pediatric Nephrology, Vol. 36, Núm. 10, pp. 3133-3142
2020
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Novel variant in the CNNM2 gene associated with dominant hypomagnesemia
PLoS ONE, Vol. 15, Núm. 9 September