Exome sequencing and the genetics of intellectual disability

Clinical Genetics

Volumn 80, Issue 2, 2011, Pages 117-126

  Topper, S ^a   Ober, C ^a   Das, S ^a  

^a UNIVERSITY OF CHICAGO   (United States)

Author keywords

Cognitive impairment; Diagnostics; Exome; Exome sequencing; Intellectual disability; Mental retardation; Next generation sequencing; Rare disease

Indexed keywords

COGNITIVE DEFECT; CONGENITAL DISORDER; CONSANGUINEOUS MARRIAGE; CYTOGENETICS; DOMINANT INHERITANCE; EXOME; GENE DELETION; GENE IDENTIFICATION; GENE MAPPING; GENE SEQUENCE; GENETIC LINKAGE; GENETIC VARIABILITY; HUMAN; INTELLECTUAL IMPAIRMENT; KABUKI MAKEUP SYNDROME; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RECESSIVE INHERITANCE; REVIEW; SCHINZEL GIEDION SYNDROME;

ANIMALS; EXONS; GENETIC VARIATION; GENOME; HUMANS; MENTAL RETARDATION; SEQUENCE ANALYSIS, DNA;

EID: 79960226584     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01720.x     Document Type: Review

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