Subject Areas on Research
- CD45-deficient severe combined immunodeficiency caused by uniparental disomy.
- Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG).
- 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.
- 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