A popular and easy-to-use guide, this book is a must-have tool for clinical consultations in genetics and genomic medicine. Ideal for quick reference during practice, it covers the process of diagnosis, investigation, management, and counselling for patients. With a strong evidence base and international guidelines, it puts reliable and trustworthy guidance at your fingertips. Designed for use as a first-line guide, the A to Z format ensures it's accessible, and the simple layout makes it ...

The Oxford Handbook of Genetics provides an essential overview of this complex subject, distilled into an accessible format for primary care practitioners and junior doctors. It can be used as an aide memoire to gain advice on dealing with individual patients during the working day, or as a reference text to be read over time. Combining the expertise of leading geneticists with the knowledge of experienced general practitioners, the handbook covers the genetics core curriculum as ...

Fetal and Neonatal Secrets by Drs. Richard Polin and Alan Spitzer, uses the success formula of the highly popular Secrets Series to offer fast answers to the most essential clinical questions in fetal and neonatal medicine. With its user-friendly Q&A format, practical tips from neonatologists and fetal medicine experts, and "Key Points" boxes, this portable and easy-to-read medical reference book provides rapid access to the practical knowledge you need to succeed both in practice and on b...

Tough Test Questions? Missed Lectures? Not Enough Time?Fortunately for you, there's Schaum's.More than 40 million students have trusted Schaum's to help them succeed in the classroom and on exams. Schaum's is the key to faster learning and higher grades in every subject. Each Outline presents all the essential course information in an easy-to-follow, topic-by-topic format. You also get hundreds of examples, solved problems, and practice exercises to test yo...

Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consultant in Neuromuscular Disorders, to provide a thorough update on all aspects of the disorder. Recent understanding of the nature of the genetic defect responsible for Duchenne Muscular Dystrophy and ...

How will increased understanding of the human genome affect our ability to diagnose and treat disease? The subject of recombinant DNA technology is no longer limited to the research laboratory; it is being discussed in ever-widening medical circles. Introduction to Molecular Medicine is especially written for the physician who is not a genetics expert but wishes to understand this new science and find entry to the more specialized publications. The first chapters present t...

Dr. Richard Olree believes that the key to the biological role of all trace minerals has been available to science for decades, but nobody realized it. Will his Standard Genetic Code Chart prove to be the Rosetta Stone of trace nutrients? Through sequencing the amino acids in the process of constructing proteins, Olree has traced all the elements to their participatory function in the life process.In this cutting-edge book, the connection is made between the physical, chemical and b...

Schizophrenia may not be a single disease, but the result of a diverse set of related conditions. Modern neuroscience is beginning to reveal some of the genetic and environmental underpinnings of schizophrenia; however, an approach less well travelled is to examine the medical disorders that produce symptoms resembling schizophrenia. This book is the first major attempt to bring together the diseases that produce what has been termed 'secondary schizophrenia'. International experts from di...

This book provides the ophthalmologist with the most recently available data on the macular dystrophies, a group of many different inherited or sporadic eye conditions linked by a problem with photoreceptors or other structures of the central retina. Internationally recognized experts in the field present the latest evidence and discuss their own personal experiences with regard to each of the principal dystrophies as well as some very rare entities. Topics covered include molecular biolog...

Sleep has recently been recognized as a critical determinant of energy balance regulating, restoration and repair of many of the physiologic and psychologic processes involved in modulating energy intake and utilization. In addition to having an impact on obesity, sleep abnormalities, both quantitative and qualitative, have now been shown to have significant effects on obesity associated comorbidities, including metabolic syndrome, premalignant lesions and cancer. Sleep problems and fatigu...

One of the time-honored foundations of the practice of pediatric medicine is the understanding and application of the principles of fluid, electrolyte and acid-base disorders. Presented in a new softcover format, Fluid and Electrolytes in Pediatrics: A Comprehensive Handbook brings together a select group of authors who share a passion and an appreciation of the contributions of pioneers in pediatric medicine and an expertise for their respective areas in a new softcover edition. ...

Next Generation Sequencing (NGS) is the latest high throughput technology to revolutionize genomic research. NGS generates massive genomic datasets that play a key role in the big data phenomenon that surrounds us today. To extract signals from high-dimensional NGS data and make valid statistical inferences and predictions, novel data analytic and statistical techniques are needed. This book contains 20 chapters written by prominent statisticians working with NGS data. The topics range fro...