Examples of Chromosomal or Mendelian Disorders Trisomies –16 most common in spontaneous lost pregnancies, does not survive to birth –21,18,13 Sex Chromosomes.
TLR Variation & Susceptibility to Pulmonary Pathogens VIDI Symposium January 22, 2009 Thomas R. Hawn, MD-PhD University of Washington.
Ehlers-Danlos Syndrome Update 2011 What We Know – And What We Don’t Know Clair A. Francomano, M.D.
ABC for the AEA Basic biological concepts for genetic epidemiology Martin Kennedy Department of Pathology Christchurch School of Medicine.
The Human Genome the human genome consists of ~3 billion bp and 30,000-35,000 genes (haploid state) it would fill about 150,000 phone book pages with A’s,
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Molecular Medicine in Clinical Practice Dr. Osama. I. Nassif, FRCPC Associate Professor and Consultant Pathologist Department of Pathology, Faculty of.
IBD sharing: Theory and applications in the Ashkenazi Jewish population
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Genomics: Two faces of a giant. Myriam Borque 2015 Master in Advanced Genetics.
Human Genetic Disorders. Types of mutations Genetic disorders occur due to mutations. Mutations are defined as permanent damage of DNA. Mutations that.
