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Documents Courtney Rice, MS Certified Genetic Counselor TriHealth March 24, 2012 OSGNA Educational Conference....

Slide 1Courtney Rice, MS Certified Genetic Counselor TriHealth March 24, 2012 OSGNA Educational Conference Hereditary GI Cancer Syndromes: Keys to identify high risk patients…

Science Development of rules for the interpretation of mismatch repair gene variants based on the 5-tiered.....

1.Development of rules for the interpretation of mismatch repair gene variants based on the 5-tiered IARC classification system On behalf of the InSiGHT Variant Interpretation…

Health & Medicine Osteogenesis imperfecta

1. Jordan HansardGenetics Presentationhttp://www.beltina.org/health-dictionary/osteogenesis-imperfecta-types-treatment.html 2. http://ghr.nlm.nih.gov/gene/COL1A1 3. http://ghr.nlm.nih.gov/gene/COL1A2…

Documents Fundamentals of Analysis of Exomes

1. Fundamentals of Analysis of ExomesDiego Forero, MD, PhD Assistant ProfessorDirector, Laboratory of NeuroPsychiatric GeneticsDirector, Medical Research Office School of…

Technology Bioinformatics Computation and Visualization at the University Louisville

BIOINFORMATICS COMPUTATIONAND VISUALIZATION AT THEUNIVERSITY LOUISVILLEEric C. Rouchka and Adel S. ElmaghrabyComputer Engineering and Computer Science DepartmentNovember…

Documents Genetic Variants of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Implications for...

Slide 1 Genetic Variants of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Implications for Low-Density Lipoprotein Cholesterol (LDL-C) © 2014 Amgen Inc. All rights…

Documents ETEROGENEITA’ GENETICA DELL’ANEMIA DI FANCONI Anna Savoia Università di Trieste XXXIII...

Slide 1 ETEROGENEITA’ GENETICA DELL’ANEMIA DI FANCONI Anna Savoia Università di Trieste XXXIII CONGRESSO NAZIONALE AIEOP Padova e Abano Terme 22-24 ottobre 2006 Slide…

Documents Overview of the “International Guidelines for the Management and Treatment of Morquio A...

Slide 1 Overview of the “International Guidelines for the Management and Treatment of Morquio A Syndrome” Slide 2 2 Guidelines establish the standard of care for Morquio…

Documents A (very) brief introduction to monogenic diabetes Created by the University of Chicago Kovler...

A (very) brief introduction to monogenic diabetes Created by the University of Chicago Kovler Diabetes Center See www.kovlerdiabetescenter.org for more information and how…

Documents 1 LYNCH SYNDROME EPCAM FAMILY WITH PREDOMINANT COLORECTAL CANCER HENRY T. LYNCH, MD; STEPHEN N....

LYNCH SYNDROME EPCAM FAMILY WITH PREDOMINANT COLORECTAL CANCER HENRY T. LYNCH, MD; STEPHEN N. THIBODEAU, PHD; CARRIE SNYDER, MSN, RN, APNG; JENNIFER RHEES; BRITTANY THOMAS,…