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Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping.
Bruno, D L; White, S M; Ganesamoorthy, D; Burgess, T; Butler, K; Corrie, S; Francis, D; Hills, L; Prabhakara, K; Ngo, C; Norris, F; Oertel, R; Pertile, M D; Stark, Z; Amor, D J; Slater, H R.
Affiliation
  • Bruno DL; Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia. damien.bruno@mcri.edu.au
J Med Genet ; 48(12): 831-9, 2011 Dec.
Article in En | MEDLINE | ID: mdl-22039585
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosome Aberrations / Polymorphism, Single Nucleotide / Genotype / Karyotyping Aspects: Ethics Limits: Adolescent / Adult / Aged / Child / Child, preschool / Humans / Infant / Middle aged Language: En Journal: J Med Genet Year: 2011 Document type: Article Affiliation country: Australia Country of publication: Reino Unido
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosome Aberrations / Polymorphism, Single Nucleotide / Genotype / Karyotyping Aspects: Ethics Limits: Adolescent / Adult / Aged / Child / Child, preschool / Humans / Infant / Middle aged Language: En Journal: J Med Genet Year: 2011 Document type: Article Affiliation country: Australia Country of publication: Reino Unido