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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
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In: Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8 (2019)
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| 2 |
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci
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| 3 |
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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| 4 |
Identification of relations between risk factors and their pathologies or health conditions by mining scientific literature.
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In: ISSN: 0926-9630 ; EISSN: 1879-8365 ; Studies in Health Technology and Informatics ; https://hal-riip.archives-ouvertes.fr/pasteur-00606238 ; Studies in Health Technology and Informatics, IOS Press, 2010, 160 (Pt 2), pp.964-8. ⟨10.1111/j.1567-1364.2008.00361.x⟩ (2010)
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| 5 |
Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus
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| 6 |
Highly significant linkage to the SLI1 locus in an expanded sample of individuals affected by specific language impairment.
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In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; ORA review team (2004)
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