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Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family
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In: ISSN: 0301-4851 ; EISSN: 1573-4978 ; Molecular Biology Reports ; https://hal-riip.archives-ouvertes.fr/pasteur-03565723 ; Molecular Biology Reports, Springer Verlag, 2019, 46 (4), pp.4185 - 4193. ⟨10.1007/s11033-019-04869-6⟩ (2019)
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Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis.
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In: Human molecular genetics, vol 27, iss 24 (2018)
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GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium.
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In: Molecular psychiatry, vol 22, iss 3 (2017)
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Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
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In: American journal of human genetics, vol 99, iss 3 (2016)
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Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome
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In: Research outputs 2014 to 2021 (2015)
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Functional annotation signatures of disease susceptibility loci improve SNP association analysis.
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Associations of Prenatal Nicotine Exposure and the Dopamine Related Genes ANKK1 and DRD2 to Verbal Language
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The roles of FMRP-regulated genes in autism spectrum disorder: single- and multiple-hit genetic etiologies.
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In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2013)
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DNA evidence for strong genome-wide pleiotropy of cognitive and learning abilities.
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In: Behav Genet , 43 (4) 267 - 273. (2013) (2013)
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IQdb: An intelligence quotient score-associated gene resource for human intelligence
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A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci
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Genetic Variants of FOXP2 and KIAA0319/TTRAP/THEM2 Locus Are Associated with Altered Brain Activation in Distinct Language-Related Regions
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In: ISSN: 0270-6474 ; EISSN: 1529-2401 ; Journal of Neuroscience ; https://hal-pasteur.archives-ouvertes.fr/pasteur-01580207 ; Journal of Neuroscience, Society for Neuroscience, 2012, 32 (3), pp.817 - 825. ⟨10.1523/JNEUROSCI.5996-10.2012⟩ (2012)
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DCDC2, KIAA0319 and CMIP are associated with reading-related traits.
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In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2011)
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Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects.
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In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2011)
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CNTNAP2 variants affect early language development in the general population.
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In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef ; ORA review team (2011)
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Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network.
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In: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, vol 126B, iss 1 (2004)
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In search of the perfect phenotype: an analysis of linkage and association studies of reading and reading-related processes.
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