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A. Tomita-Mitchell et al.
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S. B. Bleyl et al.
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Familial recurrence of congenital heart disease: an overview and review of the literature
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KG Ackerman et al.
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LM Beauchesne et al.
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A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome
K Prescott et al.
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NKX2.5 mutations in patients with congenital heart disease
DB McElhinney et al.
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CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle
E Goldmuntz et al.
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MC Digilio et al.
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NKX2.5 mutations in patients with tetralogy of Fallot
E Goldmuntz et al.
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PC Ng et al.
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Congenital heart disease and genetic syndromes: Specific correlation between cardiac phenotype and genotype
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EC Svensson et al.
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