Ärftliga sjukdomar & rubbningar

Genetisk vägledning handlar om hur en vårdgivare överför information till en vårdtagare om arv och ärftlighet i familjen. Denna process kräver kunskap om klinisk genetik, lagar och förordningar samt en god förmåga att kunna lyssna in den eller de ...

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The untold story of how hereditary data in mental hospitals gave rise to the science of human heredity In the early 1800s, a century before there was any concept of the gene, physicians in insane asylums began to record causes of madness in their ...

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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 mer Genetiska sjukdomar är en översiktlig,...

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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 i...

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Genetic approaches have revolutionized our understanding of the fundamental causes of human disease by permitting the identification of specific genes in which variation causes or contributes to susceptibility to, or protection from, disease. More...

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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 endocri...

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This new volume of Methods in Enzymology continues the legacy of this premier serial with quality chapters authored by leaders in the field. This volume covers microbial metagenomics, metatranscriptomics, and metaproteomics, and includes chapters ...

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This new volume of Methods in Enzymology continues the legacy of this premier serial with quality chapters authored by leaders in the field. This volume covers microbial metagenomics, metatranscriptomics, and metaproteomics, and includes chapters ...

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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 endocri...

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Genetic approaches have revolutionized our understanding of the fundamental causes of human disease by permitting the identification of specific genes in which variation causes or contributes to susceptibility to, or protection from, disease. More...

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Noonan Syndrome: Characteristics and Interventions provides an in-depth analysis on this disorder that pediatric endocrinologists and primary care clinicians can use to make sure they provide affected patients with an updated model of care and app...

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Noonan Syndrome: Characteristics and Interventions provides an in-depth analysis on this disorder that pediatric endocrinologists and primary care clinicians can use to make sure they provide affected patients with an updated model of care and app...

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Molecular Chaperones in Human Disorders, Volume 114 in the Advances in Protein Chemistry and Structural Biology series, provides an overview of current developments in mechanisms underlying DNA repair and their involvement in maintaining chromatin...

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Molecular Chaperones in Human Disorders, Volume 114 in the Advances in Protein Chemistry and Structural Biology series, provides an overview of current developments in mechanisms underlying DNA repair and their involvement in maintaining chromatin...

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Genetic Steroid Disorders, Second Edition targets adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It is designed to assist these...

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This valuable text represents a comprehensive survey of well over 300 distinct inherited dermatologic conditions. Each disease entry follows a consistent format, allowing the clinician to quickly scan and access key information for differential di...

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The potential uses of CRISPR-Cas9 and other gene editing technologies are unprecedented in human history. Altering human DNA, however, raises enormously difficult questions. Some of these questions are about safety: Can these technologies be deplo...

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International uproar followed the recent announcement of the birth of twin girls whose genomes had been edited with a breakthrough DNA editing-technology. This technology, called clustered regularly interspaced short palindrome repeats or CRISPR-C...

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International uproar followed the recent announcement of the birth of twin girls whose genomes had been edited with a breakthrough DNA editing-technology. This technology, called clustered regularly interspaced short palindrome repeats or CRISPR-C...

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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 individ...

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Cystic Fibrosis: The Facts provides a much needed simple and understandable source book about this disease. It is aimed at those living with the Cystic Fibrosis (CF), either themselves or members of their families or their friends. The book explai...

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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 p...

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Clinicians and scientists are increasingly recognising the importance of an evolutionary perspective in studying the aetiology, prevention, and treatment of human disease; the growing prominence of genetics in medicine is further adding to the int...

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Containing concise, updated, and easy-to-use summaries on a comprehensive range of clinical scenarios and conditions encountered by paediatricians and multi-disciplinary professionals in their everyday practice, this new edition of Neurodisability...

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Containing concise, updated, and easy-to-use summaries on a comprehensive range of clinical scenarios and conditions encountered by paediatricians and multi-disciplinary professionals in their everyday practice, this new edition of Neurodisability...

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The Spondylarthritides provides up to date, in depth reviews of the current state of knowledge of the genetic, epidemiologic, microbiologic, and immunologic aspects of these disorders. The book provides extensive clinical descriptions of the spond...

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The third edition of a classic work originally published by Lippincott Raven. Tuberous Sclerosis is a genetic disease characterized by lesions of the skin and central nervous system, seizures, and sometimes severe mental retardation. This revised ...

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Since the first edition of this highly acclaimed text was published in 1992, much new knowledge has been gained about the role of genetic factors in common adult disease, and we now have a better understanding of the molecular processes involved i...

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This balanced and well-integrated text gives a lucid overview of the entire process of genetic epidemiology, from familial aggregation through segregation, likage, and association studies. It is illustrated throughout with examples from the litera...

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An important milestone in medicine has been the recent completion of the Human Genome Project. The identification of 30,000 genes and their regulatory proteins provides the framework for understanding the metabolic basis of disease. This advance h...

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