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You searched for: Author/Creator Stankiewicz, P- Stankiewicz, P [remove] 7
- 616.042 7
- Medical genetics -- Periodicals 7
- 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
- MR, mental retardation -- CGH, comparative genomic hybridisation -- M-FISH, multipaint FISH -- M-TEL, multiplex FISH telomere assay -- WHCR, Wolf-Hirschhorn critical region -- WBCR, Williams-Beuren critical region -- PAC, P1 derived artificial chromosome -- YAC, yeast artificial chromosome -- BAC, bacterial artificial chromosome 1
- array-CGH -- genomic disorders -- low copy repeats 1
- array-CGH, microarray based comparative genomic hybridisation -- CGH, comparative genomic hybridisation -- FISH, fluorescence in situ hybridisation -- HMM, hidden Markov model -- HNPP, hereditary neuropathy with liability to pressure palsies -- LCR, low copy repeat -- MAD, median absolute deviation -- mCGH, metaphase-CGH -- PFGE, pulsed field gel electrophoresis -- SMS, Smith–Magenis syndrome 1
- contiguous gene syndrome -- deletion 9q34.3 -- genotype-phenotype correlation -- Opitz trigonocephaly C syndrome -- telomere 1
- idiopathic mental retardation -- subtelomeric rearrangements -- FISH 1