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Displaying 3 results.
    • Journal article
    Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants
    De Bortoli, Martina[UCL] Ivars, Marta Revencu, Nicole[UCL] Nassogne, Marie-Cécile[UCL] Lavarino, Cinzia Paco, Sonia Lammens, Martin Renders, Anne[UCL] Dumitriu, Dana Ioana[UCL] Helaers, Raphaël[UCL] Boon, Laurence M.[UCL] Baselga, Eulalia Vikkula, Miikka[UCL] (2024) American Journal of Medical Genetics Part A — (2024)
    • Journal article
    Neurological presentations of inborn errors of purine and pyrimidine metabolism
    Nassogne, Marie-Cécile[UCL] Marie, Sandrine[UCL] Dewulf, Joseph P.[UCL] (2024) Inborn Errors of Metabolism: Physiology and Biochemistry — (2024)
    • Journal article
    Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study
    Everard, Emilie[UCL] laeremans Hilde Boemer François Marie, Sandrine Vincent, Marie-Françoise[UCL] Dewulf, Joseph P.[UCL] debray, François-Guillaume De Laet Corinne Nassogne, Marie-Cécile[UCL] (2024) Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric — (2024)