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Further delineation of the female phenotype with kdm5c disease causing variants: 19 new individuals and review of the literature
Clinical Genetics, 29-05-2020, 98Article dans une revue scientifique -
Smith-magenis syndrome (sms): clinical and behavioral characteristics in a large retrospective cohort
Clinical Genetics, 27-12-2020Article dans une revue scientifique -
Clinical and neuroimaging findings in 33 patients with mcap syndrome: a survey to evaluate relevant endpoints for future clinical trials
Clinical Genetics, 07-01-2021Article dans une revue scientifique