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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 – 9 of 9 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 Skraban-Deardorff syndrome: six new cases of WDR26-related disease and expansion of the clinical phenotype Cospain, Auriane; Schaefer, Elise; Faoucher, Marie... In: ISSN: 0009-9163 ; EISSN: 1399-0004 ; Clinical Genetics ; https://hal.archives-ouvertes.fr/hal-03134882 ; Clinical Genetics, Wiley, 2021, 99 (5), pp.732-739. ⟨10.1111/cge.13933⟩ (2021) BASE Show details 3 Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction den Hoed, Joery; de Boer, Elke; Voisin, Norine... In: ISSN: 0002-9297 ; EISSN: 1537-6605 ; American Journal of Human Genetics ; https://hal-univ-rennes1.archives-ouvertes.fr/hal-03268683 ; American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (2), pp.346-356. ⟨10.1016/j.ajhg.2021.01.007⟩ (2021) BASE Show details 4 Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome Roux-Levy, Pierre-Henri; Bournez, Marie; Masurel, Alice... In: ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://hal.umontpellier.fr/hal-03338019 ; European Journal of Medical Genetics, Elsevier, 2020, 63 (12), pp.104064. ⟨10.1016/j.ejmg.2020.104064⟩ (2020) 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 6 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 7 Heterozygous deletion of the LRFN2 gene is associated with working memory deficits Thevenon, Julien; Souchay, Céline; Seabold, Gail K... In: ISSN: 1018-4813 ; EISSN: 1476-5438 ; European Journal of Human Genetics ; https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01405814 ; European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.911 - 918. ⟨10.1038/ejhg.2015.221⟩ ; http://www.nature.com/ejhg/journal/v24/n6/full/ejhg2015221a.html (2016) BASE Show details 8 BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription Dias, Cristina; Estruch, Sara B.; Graham, Sarah A.... In: ISSN: 0002-9297 ; EISSN: 1537-6605 ; American Journal of Human Genetics ; https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01680178 ; American Journal of Human Genetics, Elsevier (Cell Press), 2016, 99 (2), pp.253 - 274. ⟨10.1016/j.ajhg.2016.05.030⟩ (2016) BASE Show details 9 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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