Making headway with genetic diagnostics of intellectual disabilities

Clinical Genetics

Volumn 85, Issue 2, 2014, Pages 101-110

  Willemsen, M H ^a   Kleefstra, T ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Advances; Diagnostic yield; Genetic diagnostics; Intellectual disability

Indexed keywords

AUTOSOMAL DOMINANT INHERITANCE; BEHAVIOR DISORDER; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; COPY NUMBER VARIATION; DIAGNOSTIC VALUE; DSM-IV; ENVIRONMENTAL FACTOR; EXOME; FRAGILE X SYNDROME; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC PREDISPOSITION; HEALTH CARE; HUMAN; ICD-10; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; MENTAL DEFICIENCY; METABOLIC DISORDER; MOLECULAR DIAGNOSIS; MONOGENIC DISORDER; POINT MUTATION; POPULATION; PRIORITY JOURNAL; RECURRENCE RISK; REVIEW; SOCIAL SUPPORT; TRISOMY 21; X CHROMOSOME; COHORT ANALYSIS; GENETIC SCREENING; GENETICS; GENOMICS; HIGH THROUGHPUT SEQUENCING; INHERITANCE; INTELLECTUAL DISABILITY; MOLECULAR GENETICS; NETHERLANDS; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; PROCEDURES; TRENDS;

FMR1 PROTEIN, HUMAN; FRAGILE X MENTAL RETARDATION PROTEIN;

BASE SEQUENCE; CHROMOSOME ABERRATIONS; COHORT STUDIES; DNA COPY NUMBER VARIATIONS; EXOME; FRAGILE X MENTAL RETARDATION PROTEIN; GENETIC TESTING; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INHERITANCE PATTERNS; INTELLECTUAL DISABILITY; MOLECULAR SEQUENCE DATA; NETHERLANDS; PHENOTYPE;

EID: 84892478440     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12244     Document Type: Review

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