Subject Areas on Research
- 2001 ASHG Presidential Address. On black boxes and storytellers: lessons learned in human genetics.
- CD45-deficient severe combined immunodeficiency caused by uniparental disomy.
- Epigenetic detection of human chromosome 14 uniparental disomy.
- Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for Prader-Willi syndrome using a multiplex methylation polymerase chain reaction assay.
- Imprinting evolution and the price of silence.
- Mosaic trisomy 9 hematopoietic chimera.
- Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.
- Reciprocal uniparental disomy in yeast.
- Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly.
- Transfusion medicine illustrated: Mosaic Trisomy 9 in an infant with mixed-field ABO blood grouping.
Keywords of People