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"Provides a comprehensive description of 22q11.2DS syndrome for healthcare professionals, researchers and students Presents diagnostic and treatment strategies to help tackle this complex and often misdiagnosed and undertreated syndrome Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest research in the field Features leading international contributors in various sub-specialties, representing the many body systems affected by this syndrome Includes full color figures, flow charts and tables to guide real-time decision-making"--

Human chromosomes. --- Chromosomes --- Human genetics --- Human chromosome abnormalities. --- DiGeorge Syndrome --- DiGeorge Syndrome.

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"Genetics and Neurobiology of Down Syndrome provides a thorough review of the genetic etiology and mechanisms of trisomy 21. The author discusses the history of the syndrome, along with the clinical features and health consequences, including physical features, cognitive, and neurologic symptoms. Genetic counseling on pros and cons of prenatal screening and testing and associated ethical issues are explored. This unique book also covers the societal and demographic aspects as well as the future direction of therapeutic development."--

Down syndrome. --- Human chromosome abnormalities. --- Human chromosomes --- Chromosome abnormalities --- Genetic disorders --- 21 trisomy --- Down's syndrome --- Mongolism --- Mongolism (Disease) --- Trisomy 21 --- Human chromosome abnormalities --- Intellectual disability --- Syndromes --- Human chromosome 21 --- Abnormalities --- Down syndrome --- Down Syndrome --- Genetic aspects. --- genetics --- etiology --- Down Syndrome. --- genetics. --- etiology.

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Graeme Laurie stepped down from the Chair in Medical Jurisprudence at the University of Edinburgh in 2019. This edited collection pays tribute to his extraordinary contributions to the field. Graeme often spoke about the importance of 'legacy' in academic work and forged a remarkable intellectual legacy of his own, notably through his work on genetic privacy, human tissue and information governance, and the regulatory salience of the concept of liminality. The essays in this volume animate the concept of legacy to analyse the study and practice of medical jurisprudence. In this light, legacy reveals characteristics of both benefit and burden, as both an encumbrance to and facilitator of the development of law, policy and regulation. The contributions reconcile the ideas of legacy and responsiveness and show that both dimensions are critical to achieve and sustain the health of medical jurisprudence itself as a dynamic, interdisciplinary and policy-engaged field of thinking.

Medical laws and legislation. --- Human chromosome abnormalities --- Medical ethics. --- Medical genetics --- Diagnosis --- Moral and ethical aspects. --- Law and legislation. --- Laurie, G. T. --- Medical laws and legislation --- Biomedical ethics --- Clinical ethics --- Ethics, Medical --- Health care ethics --- Medical care --- Medicine --- Bioethics --- Professional ethics --- Nursing ethics --- Social medicine --- Human chromosomes --- Chromosome abnormalities --- Genetic disorders --- Law, Medical --- Medical personnel --- Medical registration and examination --- Physicians --- Surgeons --- Medical policy --- Medical jurisprudence --- Moral and ethical aspects --- Abnormalities --- Legal status, laws, etc. --- Law and legislation --- Laurie, Graeme T.