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Spatially explicit analysis reveals complex human genetic gradients in the Iberian Peninsula
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Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder.
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In: Autism research : official journal of the International Society for Autism Research, vol 11, iss 4 (2018)
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Y chromosomal evidence on the origin of northern Thai people.
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In: PloS one, vol 12, iss 7 (2017)
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7p22.1 microduplication syndrome: Refinement of the critical region.
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A human neurodevelopmental model for Williams syndrome.
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In: Nature, vol 536, iss 7616 (2016)
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A human neurodevelopmental model for Williams syndrome.
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In: Nature, vol 536, iss 7616 (2016)
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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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Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
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In: Jama Psychiatry, vol. 73, no. 1, pp. 20-30 (2016)
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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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A novel multi-alignment pipeline for high-throughput sequencing data.
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In: Database : the journal of biological databases and curation, vol 2014, iss 0 (2014)
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Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia.
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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 (2014)
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Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.
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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 (2014)
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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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Demographic histories, isolation and social factors as determinants of the genetic structure of Alpine linguistic groups
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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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Genetic diversity and the emergence of ethnic groups in Central Asia.
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Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level.
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In: PubMed ; http://www.ncbi.nlm.nih.gov/pubmed/ (2012)
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Clan, language, and migration history has shaped genetic diversity in Haida and Tlingit populations from southeast Alaska
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Migration distance rather than migration rate explains genetic diversity in human patrilocal groups.
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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 (2012)
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A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
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In: Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668 (2012)
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