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The genetics science is less than 150 years old, but its accomplishments have been astonishing. Genetics has become an indispensable component of almost all research in modern biology and medicine. Human genetic variation is associated with many, if not all, human diseases and disabilities. Nowadays, studies investigating any biological process, from the molecular level to the population level, use the "genetic approach" to gain understanding of that process. This book contains many diverse chapters, dealing with human genetic diseases, methods to diagnose them, novel approaches to treat them and molecular approaches and concepts to understand them. Although this book does not give a comprehensive overview of human genetic diseases, I believe that the sixteen book chapters will be a valuable resource for researchers and students in different life and medical sciences.

Genetic disorders. --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics

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This manual was designed with the objective of introducing some concepts, systematizing the existing knowledge and guiding the Health Surveillance Program for Congenital Toxoplasmosis in the city of Londrina.

Toxoplasmosis. --- Genetic disorders. --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics --- Coccidiosis --- MEDICAL

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Chimerism --- Genetic disorders --- Chimerism. --- Genetic disorders. --- Chimera (Genetics) --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Chimaera (Genetics) --- Chimeras (Genetics) --- Diseases --- Medical genetics --- Genetics

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"The sequencing of the human genome and the identification of associations between specific genetic variants and diseases have led to an explosion of genomic-based diagnostic tests. These tests have the potential to direct therapeutic interventions, predict risk or onset of disease, or detect residual disease. As research progresses and an increasing number of associations are found, further tests will be developed that can aid in providing personalized treatment options for patients. However, the adoption of genomic diagnostic tests by health care providers has been limited due to a lack of evidence regarding the clinical utility of many tests. Health funders and practitioners lack the data necessary to distinguish which tests can improve practice or the clinical settings in which tests will provide the greatest value. The Roundtable on Translating Genomic-Based Research for Health held a workshop in November 2010 to determine what evidence is needed and how it is viewed by different stakeholders in order to develop genomic diagnostic tests of clinical value. Genome-Based Diagnostics summarizes the presentations and discussions that took place throughout the workshop. Two presentations, in particular, sparked extensive discussion. One presentation proposed that all genomic diagnostic tests be reviewed and approved by the Food and Drug Administration. The other observed that venture capitalists are no longer investing substantially in the development of genomic diagnostic tests because of a lack of clarity surrounding regulatory and reimbursement pathways. Both presentations suggested the need for major changes in the systems used to develop, regulate, and reimburse genomic diagnostic tests. The report also presents the perspectives of different stakeholders in the development of genomic diagnostic tests. Each stakeholder group has a different set of needs and issues of importance, yet commonalities among them are apparent, such as the need to put patients and health outcomes at the center of discussion and action"--Publisher's description.

Congenital diseases --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Human chromosome abnormalities --- Genetic disorders --- Disorders, Genetic --- Diseases --- Medical genetics --- Human chromosomes --- Chromosome abnormalities --- Diagnosis --- Abnormalities

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Edited by two leading authorities and written by a team of international experts in the field, this book describes the causes, course and treatment of a variety of developmental and genetic disorders, including attention-deficit disorder, fragile X syndrome and the autistic spectrum disorders. There is a particular focus on the course of disorders over time, and outcome in adulthood. Outcome is an area often overlooked in other books about developmental disorders, but is an issue of great importance to parents and carers and one that has important implications for education, health, social and employment services. As well as providing succinct and up-to-date summaries of the most recent research, the authors give clinicians practical guidelines for intervention and management with children and young adults. This book is essential reading for clinicians and psychologists, and anyone working with or caring for children with special educational needs.

Developmental disabilities. --- Genetic disorders. --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics --- Disabilities --- Developmentally disabled --- Health Sciences --- General and Others