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You searched for: Author/Creator Merla, G- Merla, G [remove] 3
- Medical genetics -- Periodicals 3
- 616.042 2
- 616.0420 1
- DS, Down syndrome -- FISH, fluorescence in situ hybridisation -- PSMs, paralogous sequence mismatches -- PSQ, paralogous sequence quantification -- QF-PCR, quantitative fluorescence polymerase chain reaction 1
- FISH, fluorescence in situ hybridisation -- LCR, low copy repeat -- PSM, paralogous sequence mismatch -- PSQ, paralogous sequence quantification -- QPCR, quantitative real time polymerase chain reaction -- SNP, single nucleotide polymorphism -- WBS, Williams-Beuren syndrome 1
- Williams-Beuren syndrome -- aneuploidy -- genomics -- real time PCR -- pyrosequencing 1
- aneuploidies -- diagnosis -- paralogous -- pyrosequencing -- trisomy 1
- genotype–phenotype correlation -- Kabuki syndrome -- MLL2 -- Niikawa–Kuroki syndrome 1