A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.
A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents. Genet Med. 2013 May; 15(5):354-60.
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Algorithms
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Algorithms
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Child
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Child
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Child, Preschool
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Child, Preschool
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Consanguinity
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Consanguinity
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Databases, Nucleic Acid
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Databases, Nucleic Acid
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Female
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Female
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Genes, Recessive
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Genes, Recessive
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Genetic Services
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Genetic Services
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Homozygote
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Homozygote
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Humans
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Humans
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Infant
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Infant
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Infant, Newborn
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Infant, Newborn
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Internet
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Internet
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Male
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Male
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Medical Informatics
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Medical Informatics
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Polymorphism, Single Nucleotide
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Polymorphism, Single Nucleotide
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Software
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Software