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The top documents tagged [disease alleles]
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Transcriptome Profiling of Human Cardiac Tissues in Hypoplastic Left Heart Syndrome Karl D. Stamm, MS Donna K. Mahnke, MS; Mary A. Goetsch, MS; D. Woodrow
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Pharmacogenetics and Pharmacogenomics Kevin Zbuk, MD Medical Oncologist Juravinski Cancer Centre McMaster University
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Pharmacogenetics and Pharmacogenomics: The Hope and the Hype Kevin Zbuk, MD October, 2015
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Organization of Genetics Course Molecular Genetics Cytogenetics Transmission Genetics Population Genetics
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Genetic Traits Quantitative (height, weight) Dichotomous (affected/unaffected) Factorial (blood group) Mendelian - controlled by single gene (cystic fibrosis)
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Gaucher Disease A Closer Look Ray Molzon. Introduction Lysosomal storage disease (Sphingolipidose) Deficiency of glucocerebrosidase causes buildup of
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Patterns of Single gene disorders Lecture 2. Objectives for this lecture Gain familiarity with pedigrees & family history Appreciate distinctions
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Rare and common variants: twenty arguments G.Gibson Homework 3 Mylène Champs Marine Flechet Mathieu Stifkens 1 Bioinformatics - GBIO0009-1 - K.Van Steen
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ANNOUNCEMENTS
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ANNOUNCEMENTS Homework Quiz: Take out your HW Take a sheet of scrap paper Put your name and per. # on it Content quiz on Fri - Pedigrees Field
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Dr.S.Sethupathy,M.D.,Ph.D., Professor and Head, Dept.of Biochemistry, Rajah Muthiah Medical College, Annamalai University
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Molecular medicine - 2. Key concepts Positional cloning in identifying disease alleles (an example – cystic fibrosis) Majority of human diseases have
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