Clinical interpretation of copy number variants in the human genome.

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Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or mult

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Clinical interpretation of copy number variants in the human genome.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年學術文章

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name

Clinical interpretation of copy number variants in the human genome.

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Clinical interpretation of copy number variants in the human genome.

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Clinical interpretation of copy number variants in the human genome.

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Clinical interpretation of copy number variants in the human genome.

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Clinical interpretation of copy number variants in the human genome.

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Clinical interpretation of copy number variants in the human genome.

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P1476

Clinical interpretation of copy number variants in the human genome.

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Beata Nowakowska

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P2860

Initial sequencing and analysis of the human genome

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Structural variation in the human genome

Mapping and sequencing of structural variation from eight human genomes

UBE3A/E6-AP mutations cause Angelman syndrome

Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

Mapping copy number variation by population-scale genome sequencing

A map of human genome variation from population-scale sequencing

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

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genetic variation

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Clinical interpretation of copy number variants in the human genome.

about

P2860

P2860

Clinical interpretation of copy number variants in the human genome.

description

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P1476

P2093

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