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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 – 6 of 6 1 Care management in a French cohort with down syndrome from the AnDDI-Rares/CNSA study Roux-Levy, Pierre-Henri; Sanlaville, Damien; DE FREMINVILLE, Benedicte... In: ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://hal.archives-ouvertes.fr/hal-03403503 ; European Journal of Medical Genetics, Elsevier, 2021, 64 (10), ⟨10.1016/j.ejmg.2021.104290⟩ (2021) BASE Show details 2 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 3 Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature Demily, Caroline; POISSON, Alice; Peyroux, Elodie... In: ISSN: 1471-2350 ; BMC Medical Genetics ; https://www.hal.inserm.fr/inserm-02305085 ; BMC Medical Genetics, BioMed Central, 2017, 18 (1), pp.9. ⟨10.1186/s12881-017-0371-1⟩ (2017) BASE Show details 4 Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability Heide, Solveig; Keren, Boris; Ville, Thierry... In: ISSN: 0022-3476 ; Journal of Pediatrics ; https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01560200 ; Journal of Pediatrics, Elsevier, 2017, 185, pp.160 - 166.e1. ⟨10.1016/j.jpeds.2017.02.023⟩ ; http://www.sciencedirect.com/science/article/pii/S0022347617302214 (2017) BASE Show details 5 Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments. Leblond, Claire,; Nava, Caroline; Polge, Anne... In: ISSN: 1553-7390 ; EISSN: 1553-7404 ; PLoS Genetics ; https://www.hal.inserm.fr/inserm-01061498 ; PLoS Genetics, Public Library of Science, 2014, 10 (9), pp.e1004580. ⟨10.1371/journal.pgen.1004580⟩ (2014) BASE Show details 6 12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech Thevenon, Julien; Callier, Patrick; Andrieux, Joris. - : Nature Publishing Group, 2013 BASE Show details

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