Pediatría
Departamento
Pierre and Marie Curie University
París, FranciaPublicaciones en colaboración con investigadoras/es de Pierre and Marie Curie University (5)
2024
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Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants
Scientific Reports, Vol. 14, Núm. 1
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
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Targeting the Ubiquitin-Proteasome System in Limb-Girdle Muscular Dystrophy With CAPN3 Mutations
Frontiers in Cell and Developmental Biology, Vol. 10
2020
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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function
Human Mutation, Vol. 41, Núm. 4, pp. 837-849
2014
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Quality of survival and growth in children and young adults in the PNET4 European controlled trial of hyperfractionated versus conventional radiation therapy for standard-risk medulloblastoma
International Journal of Radiation Oncology Biology Physics, Vol. 88, Núm. 2, pp. 292-300