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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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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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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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