Publicaciones en las que colabora con MARÍA SONIA GAZTAMBIDE SÁENZ (7)
2024
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Genetic profile of a large Spanish cohort with hypercalcemia
Frontiers in Endocrinology, Vol. 15
2021
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Five patients with disorders of calcium metabolism presented with GCM2 gene variants
Scientific Reports, Vol. 11, Núm. 1
2020
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Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus
The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 4
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Novel variant in the CNNM2 gene associated with dominant hypomagnesemia
PLoS ONE, Vol. 15, Núm. 9 September
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Response to Letter to the Editor: "Forty-One Individuals with Mutations in the AVP-NPII Gene Associated with Familial Neurohypophyseal Diabetes Insipidus
The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 7
2019
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Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study
European journal of endocrinology, Vol. 180, Núm. 1, pp. 59-70
2018
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Identification of a novel large casr deletion in a patient with familial hypocalciuric hypercalcemia
Endocrinology, Diabetes and Metabolism Case Reports, Vol. 2018, Núm. 1, pp. 1-5