Varje dag drabbas någon av ärftlig cancer i vårt land, och de sällsynta ärftliga sjukdomarna är så många att man i sjukvården, oavsett specialitet, regelbundet kommer i kontakt med drabbade patienter.Läs merGenetiska sjukdomar är en översiktlig, pra…
A NEW YORK TIMES BESTSELLER A paradigm-shifting book from an acclaimed Harvard Medical School scientist and one of Time's most influential people. It's a seemingly undeniable truth that aging is inevitable. But what if everything we've been taught…
Hereditary Hemorrhagic Telangiectasia (HHT) is a rare genetic disorder that causes blood vessel abnormalities in the nose, skin, gastrointestinal tract, lungs, brain, and liver. Nosebleeds are the most common symptom of HHT, but abnormal vessels in…
Y si envejecer fuera una enfermedad y fuese tratable como tal? Un aclamado cient fico de la facultad de Medicina de Harvard y una de las personas m s influyentes seg n la revista Time. Que envejecer es inevitable es una verdad aparentemente innegab…
An excellent, brisk guide to what is likely to happen as opposed to the fantastically remote.' - Los Angeles Review of BooksIn 2018 the world woke up to gene editing with a storm of controversy over twin girls born in China with genetic changes deli…
Cleft Palate and Craniofacial Conditions: A Comprehensive Guide to Clinical Management, Fourth Edition is ideal for the graduate course on cleft palate and craniofacial conditions, or as a source book for healthcare professionals who provide service…
Highly valued across the world by genetic counsellors, medical geneticists and other healthcare professionals, Harper's Practical Genetic Counselling has established itself over previous editions as the essential guide to counselling those at risk f…
A practical approach to the investigation and treatment of adult congenital heart disease (ACHD), this fully updated Oxford Specialist Handbook is a concise and accessible overview of a complex condition. Packed with straightforward advice, manageme…
In The Genome Odyssey, Dr. Euan Ashley, Stanford professor of medicine and genetics, brings the breakthroughs of precision medicine to vivid life through the real diagnostic journeys of his patients and the tireless efforts of his fellow doctors and…
Distinguished scientists provide an overview of the molecular pathology of human disease. Each chapter provides an analysis of the molecular biological approaches to individual diseases, such as leukaemia, cardiovascular disease and cancer, and incl…
Hva er tidenes viktigste detektivhistorie? Fortellingen om menneskenes kamp for avsløre hemmeligheten om oss selv - koden som forteller hva som gjør oss til mennesker. Hva skjer når vi mennesker nå er i stand å «lese» og «skrive» den koden selv - og…
Genetic science has advanced rapidly in recent years; things happen now that might have seemed like science fiction only ten years ago. Genetics and Society looks at the history of this science and the wide-ranging impact it has had on contemporary…
The hereditary retinopathy, retinitis pigmentosa (RP), which affects 1 in 3,500 people worldwide, is the most common cause of registered visual handicap among those of the working age in developed countries. RP is a highly variable disorder where pa…
Moebius syndrome is a rare congenital neurological disorder affecting 2 to 20 out of every 1,000,000 newborns. Patients suffer from total facial paralysis and cannot close their eyes or move them from side to side. Unable to smile, frown or otherwis…
Congenital Heart Defects, or CHDs, are the most frequently occurring birth defect. In the US alone, over 25,000 babies are born each year with some form of CHD. In the last 20 years, medical advances and new surgical procedures have dramatically dec…
Dr. Perloff, the founding father of the field of adult congenital heart disease, presents a decade's worth of research and clinical data in the completely redefined 3rd edition to bring you the most current information. With advances in diagnosis an…
This is a comprehensive book addressing steroid disorders from hormonal, genetic, psychological, and surgical perspectives. It is meant to educate adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrino…
"Advances in Down Syndrome Research" represents updated research in several areas of Down Syndrome (DS).A new promising animal model of DS is reported and this opens new opportunities to study pathomechanisms and pharmacological approaches as it is…
Myotonic dystrophy is part of the group of muscular dystrophies. It is the commonest inherited muscular dystrophy and has a profound effect on individuals who are diagnosed with the disease and their families. It is present for many decades of a pat…
A Dietitian-Approved, Customizable Food Plan to Combat Iron OverloadAlso known as "iron overload" or "bronze diabetes," hemochromatosis is one of the most common genetic disorders in the US. With no known cure and life-sapping symptoms, such as fati…
This book presents an overview of lysosomal storage disorders, and provides the reader with an understanding of clinical features, associated complications, and diagnosis and management approaches. It also describes historical developments in the fi…
Dr. Gigi Siton's intention in writing book one in the trilogy of Your Body Is A Self-Healing Machine: Understanding Epigenetics - Why It Is Important To Know is to take epigenetics concepts from the ivory tower of the academics down to daily health…
The author's intention in writing this book is to take epigenetics concepts from the ivory tower of the academics down to daily healthy practice. In this book, she uses the simplistic metaphor for your body as a machine, but self-healing. This way,…
Dr. Gigi Siton's intention in writing this second book in the trilogy of Your Body Is A Self-Healing Machine: Understanding The Anatomy Of Epigenetics is to understand the anatomy that is actively involved in epigenetics' physiology. It is essentia…
With an estimated human population prevalence of 1:2000, Velo-Cardio-Facial Syndrome (VCFS) is the second-most common multiple anomaly syndrome in humans and almost all children with the syndrome have speech and language impairments that are general…
This user-friendly handbook is intended to help the busy physician with that first critical step in clinical diagnosis.
This guide to genetic disorders that tend to affect the Jewish population more than the non - Jewish begins with a short history of the Jews and basic facts concerning genetics and genetic disorders. The in-depth information that follows is categori…
This book uses an incidence approach to look at the economic repercussions of birth defects. The authors investigate eighteen of the most clinically significant birth defects affecting 35,000 newborns each year in our country. Their assessments sugg…
To most cardiologists, the long QT syndrome is a relatively rare congenital and familial syndrome that affects children or young adults. However, in addition to congenital LQTS there is a series of acquired forms of the syndrome, usually resulting f…
Recent years have seen rapid advances in our understanding of genetic diseases in terms of their molecular origins. The book focuses on DNA mutations which give rise to abnormalities of protein structure and function in genetic disease.
The onset of cancer presents one of the most fundamental problems in modern biology. In Dynamics of Cancer, Steven Frank produces the first comprehensive analysis of how particular genetic and environmental causes influence the age of onset. The boo…
Primary immunodeficiency diseases, first recognized 60 years ago, are inherited disorders that affect human adaptive and innate immunity. In most cases, affected individuals experience recurrent infections, but they may also suffer from autoimmune d…
This invaluable resource discusses insights ranging from basic biological mechanisms of various types of stem cells through the potential applications in the treatment of human diseases, including cancer and genetic disorders. These discoveries are…
As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the fi…
This issue serves as a timely review of both the genetic and genomic factors resulting in a predisposition to human cancer. There is now strong evidence to support the use of genetic testing for cancer predisposition in the practice of preventive me…
This book describes in detail the clinical presentation, diagnosis, and management of a wide range of congenital bleeding disorders. It will assist readers in overcoming the significant challenges involved in clinical and laboratory diagnosis and in…
This user-friendly handbook is intended to help the busy physician with that first critical step in clinical diagnosis: how to determine that this is an inherited metabolic disease, and where one goes from here to establish a diagnosis. The well-ill…
The muscular dystrophies are an important group of inherited disorders. They are characterized by muscle wasting and weakness, but vary considerably in their clinical manifestations and severity.This text reviews our understanding of the most import…
For most people, a diagnosis of cystic fibrosis means the certainty of a life ended too soon. But for Isabel Stenzel Byrnes and Anabel Stenzel, twin girls with the disease, what began as a family's stubborn determination grew into a miracle. The tra…
Is a debilitating physical condition holding you back from getting the physique you want? Discover a proven formula to get stronger and finally feel great about your body .Illness or bad genes can make it really hard to gain muscle or lose fat somet…
Lysosomal storage diseases are inherited metabolic disorders characterized by severe pathology, typically involving the brain. Although individually rare, they collectively represent a significant group of diseases that primarily present in early in…
A description of the social, educational, and economic impact of living with a neurological genetic disorder, neurofibromatosis 1. The many unpredictable and potentially stigmatizing possible symptoms of NF1, which range from physical disfigurement…
2014 BMA Medical Book Awards 1st Prize Award Winner in Illustrated Book category and Highly Commended in Paediatrics category! Smith's Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation…
Book 6 in the Dementia series focuses on Huntington's Diseases. In simple language, the guide teaches Huntington's disease Symptoms, Causes, Risk Factors, Diagnosis, Treatment, Stages & Prevention.
New discoveries reveal how crucial interactions which determine our destiny occur before birth, when our genes interact with their environment as the embryo and fetus develop. These processes - in the matrix of the womb - are evolutionary echoes of…
