'Affected individuals' diaporamas de présentation

Genetics

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Arkansas Healthcare Association of Access Managers 2009 Fall Meeting

Arkansas Healthcare Association of Access Managers 2009 Fall Meeting. November 19, 2009. TOPICS HIPAA Revisions Security Breach & Red Flags Rule EMTALA. HIPAA. The American Recovery and Reinvestment Act of 2009 contained several revisions to the HIPAA regulations.

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Genetics QOD

Genetics QOD. You are called to examine a newborn girl who has multiple congenital anomalies. On physical examination, you notice several "punched-out" scalp ulcers,bilateral cleft lip and palate, postaxial polydactyly (extra digit on the ring finger side) of the hands, and a small omphalocele.

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Absolute, Relative and Attributable Risks

Absolute, Relative and Attributable Risks. International Society for Nurses in Genetics May 2007 Jan Dorman, PhD University of Pittsburgh Pittsburgh, PA USA. Objectives. Define measures of absolute, relative and attributable risk Identify major epidemiology study designs

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Types of biological variation Discontinuous (qualitative) variation : simple alternative

Types of biological variation Discontinuous (qualitative) variation : simple alternative forms; alternative phenotypes ; usually due to alternative genotypes often due to interactions of dominant and recessive alleles of genes common alternatives due to polymorphism

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Table of Contents

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Punnet Squares & Dihybrid Crosses

Punnet Squares & Dihybrid Crosses. Back to Basics. What are their phenotypes?. How would you describe their genotypes?. Punnet Squares. Which one is the female?. How do you know?. What if we wanted to look at two features at once?. Feather color -- ORANGE or blue

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Genetics

Genetics. Islamic University College of Nursing. Introduction. Our understanding of human genetics improved in the few past years. This was occurred after the discovery of the gene map.

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NCRAD Update

NCRAD Update. Tatiana Foroud, Ph.D. Indiana University. Identify Appropriate Families Send Columbia a Preliminary Pedigree Obtain samples/complete study visits Transfer Minimal Datatset to NCRAD Send Columbia the Sampled Pedigree. Identify Appropriate Families.

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Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ Ortal Barel

Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ Ortal Barel Laboratory of Dr. Ohad Birk Ben Gurion University Beer-Sheva, Israel. The Israeli Bedouin. Isolated inbred population High rate of consanguineous marriage Negev region of southern Israel

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Spinocerebellar Ataxia and X-Linked Bulbospinal Neuronopathy

Spinocerebellar Ataxia and X-Linked Bulbospinal Neuronopathy. Trinucleotide repeat expansions and other dynamic mutations Roy Poh October 2007. Spinocerebellar Ataxias. Autosomal dominant neurodegenerative disorder Genetically heterogeneous 28 subtypes listed

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Patient Privacy for the Life Sciences Industry: 2012 Update Drew Gantt and David Sclar

Patient Privacy for the Life Sciences Industry: 2012 Update Drew Gantt and David Sclar Cooley LLP. Agenda. Update on Enforcement Data Breach Notification Requirements HIPAA Best Practices for Business Associates. Penalties for Non-Compliance. HITECH significantly increased penalties

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Long QT and Jervell & Lange-Nielsen

Long QT and Jervell & Lange-Nielsen. Disease of heart electrophysiology. Long QT syndrome (LQT). Caused by mutations in ion channels (eg KCNQ1, KCNE1, KCNH2, KCNE2) Can be asymptomatic or result in irregular heartbeats, dizziness, fainting fits or sudden death. Long QT syndrome (LQT).

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PEDIGREE CHARTS

PEDIGREE CHARTS. A family history of a genetic condition. Quick Review. Genotype = what genes someone has Genes are usually represented by a letter, a capital letter for the dominant trait, a small case for the recessive.

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POP QUIZ!!

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Introduction

Introduction. The National Development Plan (NDP) defines active citizenship as equalising opportunities and enhancing human capabilities.

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Autosomal Recessive Inheritance

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Autosomal Recessive Inheritance

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SWBAT: describe different views of heredity Reflection:

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medical alert reviews

The condition of well being care in the Us is fairly shambolic. People young and old are suffering thanks to an inadequate well being care model and that is not just weak but in addition extravagant.

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