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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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| 2 |
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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| 3 |
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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| 4 |
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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| 5 |
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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| 6 |
A specific pathway can be identified between genetic characteristics and behaviour profiles in Prader-Willi syndrome via cognitive, environmental and physiological mechanisms.
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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 (2009)
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| 7 |
Detection, breakpoint identification and detailed characterisation of a CNV at the FRA16D site using SNP assays.
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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 (2008)
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| 8 |
Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy
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| 9 |
Molecular genetic delineation of a deletion of chromosome 13q12-->q13 in a patient with autism and auditory processing deficits.
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In: Cytogenetic and genome research, vol 98, iss 4 (2002)
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| 10 |
The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder.
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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 (2000)
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