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A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability
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In: ISSN: 1473-9542 ; EISSN: 1479-7364 ; Human Genomics ; https://hal.archives-ouvertes.fr/hal-03095127 ; Human Genomics, BioMed Central, 2020, 14 (1), ⟨10.1186/s40246-020-00281-5⟩ (2020)
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A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability
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In: Hum Genomics (2020)
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Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations
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In: ISSN: 1294-9361 ; Epileptic Disorders ; https://hal.archives-ouvertes.fr/hal-02350836 ; Epileptic Disorders, John Libbey Eurotext, 2019, ⟨10.1684/epd.2019.1056⟩ (2019)
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Autism and developmental disability caused by KCNQ3 gain‐of‐function variants
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Sands, Tristan; Miceli, Francesco; Lesca, Gaetan; Beck, Anita; Sadleir, Lynette; Arrington, Daniel; Schönewolf‐Greulich, Bitten; Moutton, Sébastien; Lauritano, Anna; Nappi, Piera; Soldovieri, Maria Virginia; Scheffer, Ingrid,; Mefford, Heather; Stong, Nicholas; Heinzen, Erin; Goldstein, David; Grijalvo Perez, Ana; Kossoff, Eric; Stocco, Amber; Sullivan, Jennifer; Shashi, Vandana; Gérard, Bénédicte; Francannet, Christine; Bisgaard, Anne‐Marie; Tümer, Zeynep; Willems, Marjolaine; Rivier, Francois; Vitobello, Antonio; Thakkar, Kavita; Rajan, Deepa; Barkovich, A. James; Weckhuysen, Sarah; Cooper, Edward; Taglialatela, Maurizio; Cilio, M. Roberta
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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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Abstract:
International audience
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Keyword:
[SDV]Life Sciences [q-bio]
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URL: https://hal.archives-ouvertes.fr/hal-02151807/document https://hal.archives-ouvertes.fr/hal-02151807 https://hal.archives-ouvertes.fr/hal-02151807/file/2019%20Sands%20et%20al.,%20Autism.pdf https://doi.org/10.1002/ana.25522
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Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
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In: ISSN: 0022-2593 ; EISSN: 1468-6244 ; Journal of Medical Genetics ; https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02064139 ; Journal of Medical Genetics, BMJ Publishing Group, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩ ; https://jmg.bmj.com/content/55/6/359.long (2018)
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