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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Hits 1 – 5 of 5 1 A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability Sapey-Triomphe, Laurie-Anne; Reversat, Julie; Lesca, Gaëtan... 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) BASE Show details 2 A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability Sapey-Triomphe, Laurie-Anne; Reversat, Julie; Lesca, Gaëtan... In: Hum Genomics (2020) BASE Show details 3 Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations Lesca, Gaëtan; Moller, Rikke S.; Rudolf, Gabrielle... 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) BASE Show details 4 Autism and developmental disability caused by KCNQ3 gain‐of‐function variants Sands, Tristan; Miceli, Francesco; Lesca, Gaetan... 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) BASE Show details 5 Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features Miguet, Marguerite; Faivre, Laurence; Amiel, Jeanne... 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) BASE Show details

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