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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspectsHuman Genetics, 2022, 141 (1), pp.65-80. ⟨10.1007/s00439-021-02383-z⟩
Journal articles
hal-03820933v1
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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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New insights into CC2D2A -related Joubert syndromeJournal of Medical Genetics, 2022, pp.jmedgenet-2022-108754. ⟨10.1136/jmg-2022-108754⟩
Journal articles
hal-03837222v1
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