Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele.
Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele. J Med Genet. 2012 Apr; 49(4):270-6.
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Chromosome Duplication
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Chromosome Duplication
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Chromosomes, Human, Pair 1
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Chromosomes, Human, Pair 1
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Comparative Genomic Hybridization
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Comparative Genomic Hybridization
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DNA Copy Number Variations
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DNA Copy Number Variations
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Female
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Female
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Genes, Dominant
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Genes, Dominant
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Genetic Linkage
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Genetic Linkage
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Genome-Wide Association Study
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Genome-Wide Association Study
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Haplotypes
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Haplotypes
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Hernia, Umbilical
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Hernia, Umbilical
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Humans
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Humans
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Lod Score
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Lod Score
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Male
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Male
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Pedigree
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Pedigree
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Polymorphism, Single Nucleotide
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Polymorphism, Single Nucleotide