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De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects
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In: ISSN: 0002-9297 ; EISSN: 1537-6605 ; American Journal of Human Genetics ; https://hal.umontpellier.fr/hal-02556784 ; American Journal of Human Genetics, Elsevier (Cell Press), 2019, 105 (4), pp.854-868. ⟨10.1016/j.ajhg.2019.09.005⟩ (2019)
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Autism and developmental disability caused by KCNQ3 gain‐of‐function variants
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In: ISSN: 0364-5134 ; EISSN: 1531-8249 ; Annals of Neurology ; https://hal.archives-ouvertes.fr/hal-02151807 ; Annals of Neurology, Wiley, 2019, ⟨10.1002/ana.25522⟩ (2019)
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