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Comprehensive and accessible overview of genetics in clinical practice with a unique systems-based approach Clinical Genetics and Genomics at a Glance combines the clinical and scientific facets of a complex subject in a way that is both accessible and succinct to facilitate the diagnosis, treatment, and management of common genetic conditions. Using the popular “at a Glance” format, this book enables the reader to gain a solid understanding of the practical applications of clinical genetics in different systems. Covering a wide range of topics, this book is perfect for an introduction on the subject texts or for revision purposes and are useful throughout medical school and beyond. Clinical Genetics and Genomics at a Glance uses a systemic approach following all the systems in the body: General topics such as inheritance, cytogenetic and molecular genetic techniques, how to read a genetic test report, and genetic counselling Chapters on key conditions with a genetic basis, organised by body systems, for example: Cardiology topics such as congenital heart disease, ischaemic heart disease, cardiomyopathies, arrhythmias, and sudden cardiac death Dermatology topics such as tuberous sclerosis, Gorlin syndrome, Darier disease, lamellar ichthyosis, mal de meleda, cutaneous porphyria, and epidermolysis bullosa Endocrinology topics such as adrenal gland conditions, androgen insensitivity syndrome, ambiguous sex syndromes, anorchism, Klinefelter syndrome, Turner syndrome, and diabetes mellitus Clinical Genetics and Genomics at a Glance is a helpful learning aid that can be used at various stages of medical training to gain an understanding of the aspects of clinical genetics and the fundamentals behind the specialty. The text also functions as a useful on-ward reference tool for practitioners of all experience levels.
This second edition of the Oxford Handbook of Key Clinical Evidence provides an alternative to the growing volumes of trial data for students, trainees and researchers looking for the key evidence affecting medical practice. Written by a team of leading figures across the major specialities, the Oxford Handbook of Key Clinical Evidence carefully selects and brings together key information on some of the most important trials currently impacting clinical practice. With introductory chapters on the history and importance of evidence based medicine complemented by in-depth analysis of the impact of each trial and its practical implications, this text is a definitive quick-reference guide in this increasingly important field. Highlighted boxes identify the study type and evidence-level attained, while analysis of the key message and impacts of the trial firmly place the evidence into a practical setting for the reader. This extensively revised Handbook presents the key data, facts, and evidence informing both medical and surgical specialties. This second edition includes a brand new chapter on paediatrics. It incorporates new landmark trials which are changing clinical practice, and re-reviews previously included trials to ensure consistency with current practice. It is essential reading for everyone with an interest in getting to grasps with the fundamental evidence underpinning modern practice.
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