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You searched for: Author/Creator Nowaczyk, M J M- Nowaczyk, M J M [remove] 4
- 616.042 4
- Medical genetics -- Periodicals 4
- 7-dehydrocholesterol reductase -- DHCR7 -- mRNA nonsense mediated decay -- Smith-Lemli-Opitz syndrome -- suppression of nonsense mediated decay 1
- 7DHC, 7-dehydrocholesterol -- DMEM, Dulbecco's Modified Eagle's Medium -- LPDS, lipoprotein deficient serum -- NMD, nonsense mediated decay -- SLOS, Smith-Lemli-Opitz syndrome 1
- ASD, atrial septal defect -- BAC, bacterial artificial chromosome -- CHD, congenital heart defects -- FISH, fluorescence in situ hybridisation -- GU, genito-urinary -- IHH, idiopathic hypogonadotropic hypogonadism -- LCR, low copy repeat -- NVDCCs, N-type voltage dependent Ca2+ channels -- OTCS, Opitz trigonocephaly C syndrome -- SNP, single nucleotide polymorphism -- SRO, shortest region of overlap -- VSD, ventricular septal defect 1
- SLOS, Smith-Lemli-Opitz syndrome -- SNP, single nucleotide polymorphism -- ARMS, amplification refractory mutation system 1
- Smith-Lemli-Opitz syndrome -- 7-dehydrocholesterol -- DHCR7 mutations -- carrier frequency 1
- contiguous gene syndrome -- deletion 9q34.3 -- genotype-phenotype correlation -- Opitz trigonocephaly C syndrome -- telomere 1