Nature and Frequency of Genetic Disease
- 1 January 2014
- book chapter
- Published by Elsevier
Abstract
No abstract availableThis publication has 11 references indexed in Scilit:
- Aneuploidy in Human SpermatozoaCytogenetic and Genome Research, 2011
- FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: Insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United StatesGenetics in Medicine, 2011
- A map of human genome variation from population-scale sequencingNature, 2010
- Phenotypic variability and genetic susceptibility to genomic disordersHuman Molecular Genetics, 2010
- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital AnomaliesAmerican Journal of Human Genetics, 2010
- Human laminopathies: nuclei gone genetically awryNature Reviews Genetics, 2006
- The incidence of aneuploidy in human oocytes assessed by conventional cytogenetic analysisHereditas, 2004
- To err (meiotically) is human: the genesis of human aneuploidyNature Reviews Genetics, 2001
- Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding.Journal of Medical Genetics, 1992
- Monogenic disorders.Journal of Medical Genetics, 1977