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You searched for: Author/Creator Pilz, D T- Pilz, D T [remove] 7
- 616.042 7
- Medical genetics -- Periodicals 7
- ASXL3, intellectual disability, Marfanoid habitus, heterozygous, loss-of-function -- Developmental -- Molecular genetics -- Clinical genetics 1
- DHPLC, denaturing high performance liquid chromatography -- FISH, fluorescent in situ hybridisation -- MLPA, multiplex ligation dependent probe amplification -- QF-PCR, quantitative fluorescent PCR -- RTT, Rett syndrome -- TRD, transcription repression domain -- UTR, untranslated region 1
- FISH, fluorescence in situ hybridisation -- OFC, occipito-frontal head circumference -- RACE, rapid amplification of cDNA ends 1
- Gross gene deletion -- MECP2 -- Rett syndrome 1
- chromosome breakpoint -- de novo translocation -- developmental delay -- recurrent infections -- TCBA1 gene 1
- neuronal migration defect -- BRCA1 -- focal nullisomy -- breast cancer 1