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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 CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language Snijders Blok, Lot; Rousseau, Justine; Twist, Joanna... In: ISSN: 2041-1723 ; EISSN: 2041-1723 ; Nature Communications ; https://hal.sorbonne-universite.fr/hal-01922858 ; Nature Communications, Nature Publishing Group, 2018, 9 (1), pp.4619. ⟨10.1038/s41467-018-06014-6⟩ (2018) 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 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 4 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 5 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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