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Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11
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Isolation and mapping of cosmid markers on human chromosome 22, including one within the submicroscopically deleted region of DiGeorge syndrome
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Deletion mapping of 22q11 in CATCH22 syndrome: Identification of a second critical region
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Molecular cytogenetic characterization of DiGeorge syndrome region using fluorescence in situ hybridization
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Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2
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Autosomal dominant 'Opitz' GBBB syndrome due to a 22q11.2 deletion
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The velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus
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