Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2

Journal of Medical Genetics

Volumn 42, Issue 11, 2005, Pages 871-876

  Rauch, A ^a,c   Zink, S ^a   Zweier, C ^a   Thiel, C T ^a   Koch, A ^a   Rauch, R ^b   Lascorz, J ^a   Huffmeier U ^a   Weyand, M ^a   Singer, H ^a   Hofbeck, M ^b  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHOANA ATRESIA; CHROMOSOME 22Q; COHORT ANALYSIS; CONTROLLED STUDY; CORRELATION ANALYSIS; DNA PROBE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENOTYPE; HEART DISEASE; HUMAN; MAJOR CLINICAL STUDY; MENTAL DEFICIENCY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; STATISTICAL SIGNIFICANCE;

CHROMOSOMES, HUMAN, PAIR 22; COHORT STUDIES; FACIES; FEMALE; GENE DELETION; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION; MODELS, GENETIC; OLIGONUCLEOTIDE PROBES; PHENOTYPE; RETROSPECTIVE STUDIES;

EID: 27744574086     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.030619     Document Type: Article

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