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Article
Open Access1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans
Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Hu...
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Article
Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
Prior to and following the publication of this article the authors noted that the complete list of authors was not included in the main article and was only present in Supplementary Table 1. The author list in...
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Article
Open AccessDose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
Carriers of large recurrent copy number variants (CNVs) have a higher risk of develo** neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizoph...
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Article
Copy number variations as potential diagnostic and prognostic markers for CNS melanocytic neoplasms in neurocutaneous melanosis