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Patients with KCNH1 -related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndromeJournal of Medical Genetics, 2021, pp.jmedgenet-2020-107511. ⟨10.1136/jmedgenet-2020-107511⟩
Journal articles
hal-03244899v1
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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorderGenetics in Medicine, 2021, 23 (11), pp.2150-2159. ⟨10.1038/s41436-021-01263-1⟩
Journal articles
hal-03269307v1
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