Search
Search Constraints
You searched for: Author/Creator Antonarakis, S E- Antonarakis, S E [remove] 6
- 616.042 6
- Medical genetics -- Periodicals 6
- CEPH, Centre d'Etude du Polymorphisme Humain -- ESE, exonic splicing enhancer -- HW, Hardy-Weinberg -- ILAE, International League Against Epilepsy -- JME, juvenile myoclonic epilepsy -- LD, linkage disequilibrium -- RS, randomly selected -- SNP, single nucleotide polymorphism 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
- connexin36 -- gap junction -- idiopathic epilepsy -- juvenile myoclonic epilepsy -- single nucleotide polymorphism 1