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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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