Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping

Journal of Medical Genetics

Volumn 48, Issue 12, 2011, Pages 831-839

  Bruno, D L ^a,b   White, S M ^a,b   Ganesamoorthy, D ^a,b   Burgess, T ^a   Butler, K ^a   Corrie, S ^a   Francis, D ^a   Hills, L ^a   Prabhakara, K ^a   Ngo, C ^a   Norris, F ^a   Oertel, R ^a   Pertile, M D ^a   Stark, Z ^a   Amor, D J ^a,b   Slater, H R ^a,b  

^a MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHIMERA; CHROMOSOME ABERRATION; CHROMOSOME MOSAICISM; COMPUTER ANALYSIS; CONSANGUINITY; CONTROLLED STUDY; GENETIC DISORDER; GENOME ANALYSIS; GENOTYPE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INFANT; KARYOTYPING; LONG CONTINUOUS STRETCHES OF HOMOZYGOSITY; MAJOR CLINICAL STUDY; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN; DEVELOPMENTAL DISABILITIES; DNA COPY NUMBER VARIATIONS; GENETIC TESTING; GENOTYPE; HUMANS; INFANT; INTELLECTUAL DISABILITY; KARYOTYPING; LOSS OF HETEROZYGOSITY; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; YOUNG ADULT;

EID: 84856005830     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100372     Document Type: Article

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