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- Prieur, M [remove] 10
- 616.042 10
- Medical genetics -- Periodicals 10
- CdLS, Cornelia de Lange syndrome -- DAPI, 4′, 6′-diamidino-2-phenylindole 1
- MR, mental retardation -- CGH, comparative genomic hybridisation -- FISH, fluorescence in situ hybridisation -- UPD, uniparental disomy -- PFGE, pulse field gel electrophoresis -- DOP-PCR, degenerate oligonucleotide primed polymerase chain reaction 1
- NSD1 -- overgrowth syndromes -- mutation screening -- genotype/phenotype correlations 1
- Prader-Willi-like phenotype -- SIM1 gene -- chromosome 6q deletion 1
- array-CGH -- Brachmann de Lange syndrome -- isochromosome 18p -- NIPBL -- subtelomeric deletion 1
- array-CGH, array-based CGH -- ASD, autism spectrum disorders -- CGH, comparative genomic hybridisation -- DSM IV, Diagnostic Statistical Manual for Mental Disorders—fourth edition -- FISH, fluorescence in situ hybridisation -- PDD, pervasive developmental disorder -- PDD—NOS, PDD—not otherwise specified 1
- mental retardation -- subtelomeric rearrangements -- uniparental disomies -- fluorescent genotyping 1
- ring (22) -- deletion 22q13 -- parental origin -- phenotype-genotype correlations -- telomere 1