Grupo de Investigación de Endocrinología, Diabetes, Nutrición, alteraciones Renales y Salud Infantil - GIC 21/144
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Vall d'Hebron Institut de Recerca
Barcelona, EspañaPublications in collaboration with researchers from Vall d'Hebron Institut de Recerca (10)
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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Gut microbial dysbiosis in patients with Cushing’s disease in long-term remission. Relationship with cardiometabolic risk
Frontiers in Endocrinology, Vol. 14
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Mortality in Acromegaly Diagnosed in Older Individuals in Spain Is Higher in Women Compared to the General Spanish Population
The Journal of clinical endocrinology and metabolism, Vol. 108, Núm. 9, pp. 2193-2202
2022
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Consensus guide on prophylactic gonadectomy in different sex development
Endocrinologia, Diabetes y Nutricion, Vol. 69, Núm. 8, pp. 629-645
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Factors associated with therapeutic response in acromegaly diagnosed in the elderly in Spain
Frontiers in Endocrinology, Vol. 13
2021
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Familial hypomagnesemia with hypercalciuria and nephrocalcinosis
Pediatric Nephrology, Vol. 36, Núm. 10, pp. 3045-3055
2020
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Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
Molecular Genetics and Genomic Medicine, Vol. 8, Núm. 11
2019
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Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings
Frontiers in Immunology, Vol. 10
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Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
2018
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Management guidelines for disorders / different sex development (DSD)
Anales de Pediatria, Vol. 89, Núm. 5, pp. 315.e1-315.e19