'Online mendelian inheritance' presentation slideshows

Single Nucleotide Polymorphisms

Single Nucleotide Polymorphisms. Arthur M. Lesk Bologna Winter School 2011. What are SNPs and why are they important?. SNP = Single nucleotide polymorphism, an isolated change in a single nucleotide SNPs are one type of mutation Some have obvious functional consequences

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Lecture 19 Lexical networks

Lecture 19 Lexical networks. Slides modified from Dragomir R. Radev. Social data. Blog postings News stories Speeches in Congress Query logs Movie and book reviews Scientific papers Financial reports Query logs Encyclopedia entries Email Chat room discussions Social networking sites.

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Chapter 4 Genetics: From Genotype to Phenotype

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The C linical and F unctional TR anslation of CFTR (CFTR2) Project

The C linical and F unctional TR anslation of CFTR (CFTR2) Project. Garry Cutting on behalf of the CFTR2 project team. CF Transmembrane conductance Regulator (CFTR). Serohijos A. W. R. et.al. PNAS;2008;105:3256-3261. CFTRdele 22,23. R1077P. N1303K. D1152H. R117H-5T/7T. S1251N.

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Leukodystrophies in Adults

Leukodystrophies in Adults. August 12, 2004. Objectives:. To discuss the leukodystrophies which may present in adulthood, their etiologies, presentation, and management. Leukodystrophy. Genetic diseases showing morphological changes in white matter.

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A Study of Cystic Fibrosis Using Web-Based Tools

A Study of Cystic Fibrosis Using Web-Based Tools. Anuradha Datta Murphy Graduate Student, Dept. of Molecular and Integrative Physiology, University of Illinois at Urbana-Champaign. Introduction:.

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Online Mendelian Inheritance in Man (OMIM): What it is & What it can do for you

Online Mendelian Inheritance in Man (OMIM): What it is & What it can do for you. Knowledge Management & Eskind Biomedical Library January 27, 2012 helen n aylor helen.naylor@vanderbilt.edu 936.3103. Objectives. Quick review of Central Dogma Define terms Familiarize with OMIM:

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Online Mendelian Inheritance in Man (OMIM): What it is & What it can do for you

Online Mendelian Inheritance in Man (OMIM): What it is & What it can do for you. Knowledge Management & Eskind Biomedical Library January 27, 2012 helen n aylor helen.naylor@vanderbilt.edu 936.3103. Objectives. Quick review of Central Dogma Define terms Familiarize with OMIM:

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Chicken QTL Phenotype Ontology

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Databases

Databases. Sequence and Bibliographic Genomic Clinical and Mutation Homologies Integrated Most databases are accessible from a web page are interlinked. Types of Database. Main nucleic acid sequence databases EMBL GenBank DDBJ Main protein sequence databases Swiss Prot

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