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Julie Coton, Audrey Labalme, Marianne Till, Gerald Bussy, Sonia Krifi Papoz, et al.. Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations. Clinical Case Reports, 2018, 6 (5), pp.827-834. ⟨10.1002/ccr3.1450⟩. ⟨hal-04480033⟩
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Elke de Boer, Charlotte Ockeloen, Rosalie Kampen, Juliet Hampstead, Alexander Dingemans, et al.. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein. Genetics in Medicine, 2022, 24 (10), pp.2051-2064. ⟨10.1016/j.gim.2022.06.007⟩. ⟨hal-03790568v2⟩
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Caroline Schluth Schluth-Bolard, Flavie Diguet, Nicolas Chatron, Pierre-Antoine Rollat-Farnier, Claire Bardel, et al.. Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders. Journal of Medical Genetics, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩. ⟨hal-03863519⟩
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Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, et al.. Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. Journal of Medical Genetics, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩. ⟨hal-02064139⟩
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Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne-Claire Richard, Alexandra Afenjar, et al.. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders. European Journal of Human Genetics, 2024, 32 (2), pp.190-199. ⟨10.1038/s41431-023-01474-x⟩. ⟨hal-04283066⟩
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