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Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients

Regina Ensenauer, Adewale Adeyinka, Heather C. Flynn et al. · The American Journal of Human Genetics · 2003 · 381 citations · Full text

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Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

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