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Cryptic and Complex Chromosomal Aberrations in Early-Onset ...

Cryptic and Complex Chromosomal Aberrations in Early enrichment of large, de novo copy which encodes a neuron-specific splicing factor involved with

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EasyEnsemble and Feature Selection for Imbalance Data Sets

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Detection of Clinically Relevant Genetic Variants in Autism ...

Detection of Clinically Relevant Genetic Variants in a manual assessment of potential denovo effect on splicing of the gene or

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De Novo Gene Disruptions in Children on the Autistic Spectrum

De Novo Gene Disruptions in Children on the De novo mutations derive mainly mutationsoutside the consensus that disrupt splicing and in-frame indels that

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Reconstructing isoform graphs from RNA-Seq data

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A de novo circular RNA CIRI_v1.2_manual.txt: CIRI-AS is a de novo detection tool forcircRNA internal components and alternative splicing events

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BMC Medical Genomics 2011 R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J TC, et al: Strong association of de novo copy number

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Hyperinsulinemia and impaired leptin-adiponectin ratio associate with endothelial denovo native coronary artery stability and enzyme levels by affecting

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De novo and rare inherited mutations implicate the ...

Results IMGSAC family screening identified a de novo missense De novo and rare inheritedmutations implicate the transcriptional to affect splicing using

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CNOVA | Welcome to the CNOVA website

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Sometimes manual re-building of the structure will be He, You Qun; Correia, Maria crystallographic data or computer-assisted de novo

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Autism genetics: searching for specificity and convergence ...

Autism genetics: searching for specificity and convergence. Jamee M Berg 1, 2, both denovo and inherited, and evidence for splicing dysregulation in ASD

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Differential Signal from De Novo Missense and Gene disrupt splicing and in-frame incidence of de novo gene disrupting events and our

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