Publicaciones en colaboración con investigadoras/es de University of Paris-Sorbonne (8)

2024

  1. Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants

    Scientific Reports, Vol. 14, Núm. 1

2021

  1. 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

2020

  1. Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

    Human Mutation, Vol. 41, Núm. 4, pp. 837-849

2016

  1. Hyperechogenic kidneys and polyhydramnios associated with HNF1B gene mutation

    Pediatric Nephrology, Vol. 31, Núm. 10, pp. 1705-1708

2014

  1. A Delphi process to optimize quality and performance of drug evaluation in neonates

    PLoS ONE, Vol. 9, Núm. 9

  2. 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

2007

  1. New ABCC8 mutations in relapsing neonatal diabetes and clinical features

    Diabetes, Vol. 56, Núm. 6, pp. 1737-1741

1989

  1. Normal insulin sensitivity during the phase of glucose intolerance but insulin resistance at the onset of diabetes in the spontaneously diabetic BB rat

    Diabetologia, Vol. 32, Núm. 12, pp. 839-844