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DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations.
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In: Neurology, vol. 96, no. 14, pp. e1887-e1897 (2021)
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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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Mapping Chromosomal Loci in Specific Language Impairment: A Pedigree-Focused Approach
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Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.
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In: Genetics in medicine, vol. 20, no. 7, pp. 778-784 (2018)
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The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.
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In: Biological psychiatry, vol. 80, no. 2, pp. 129-139 (2016)
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Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.
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In: Invest Ophthalmol Vis Sci , 56 (13) pp. 8297-8305. (2015) (2015)
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Identification of Large Families in Early Repolarization Syndrome.
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In: ISSN: 0735-1097 ; Journal of the American College of Cardiology ; https://hal.archives-ouvertes.fr/hal-00879642 ; Journal of the American College of Cardiology, Elsevier, 2013, 61 (2), pp.164-72. ⟨10.1016/j.jacc.2012.09.040⟩ (2013)
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TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
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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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Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia.
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In: J Neurol Neurosurg Psychiatry , 84 (11) 1255 - 1257. (2013) (2013)
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Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean 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 (2011)
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A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3.
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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 (2010)
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Heritable risk factors associated with language impairments.
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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 (2007)
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Heritable risk factors associated with language impairments
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In: GENES BRAIN BEHAV , 6 (1) 66 - 76. (2007) (2007)
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Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.
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In: ISSN: 1364-6745 ; EISSN: 1364-6753 ; neurogenetics ; https://hal.archives-ouvertes.fr/hal-00281700 ; neurogenetics, Springer Verlag, 2006, 7 (3), pp.149-56. ⟨10.1007/s10048-006-0044-2⟩ (2006)
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Functional imaging as a predictor of schizophrenia.
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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 (2006)
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Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits.
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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 (2005)
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A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells.
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In: Journal of the Association for Research in Otolaryngology : JARO, vol 5, iss 4 (2004)
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Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus
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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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