Sep 192017
 

Translational Informatics in Smart Healthcare (Advances in Experimental Medicine and Biology)


This book is about the transformation of the biomedical information to smart healthcare, the chapters are designed to discuss the health associated factors such as genetics, lifestyle, nutrition and environmental factors. The interactions of these factors and the informatics for the analyses of their effects on health are also covered. The era of aging is approaching and the P4 (predictive, preventive, personalized and participatory) medicine paradigm is becoming practical and reality. According to the Kondratiev’s long wave theory, IT (information technology) and health will be the next technological revolution for the new economic cycle. This book is written for biomedical informatics scientists, clinicians, health practitioners and researchers, etc.

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Sep 042017
 

Personalised Medicine: Lessons from Neurodegeneration to Cancer (Advances in Experimental Medicine and Biology)


The mammalian genome is constantly challenged by exogenous and endogenous threats. Although much is known about the mechanisms that maintain genome integrity, little is known about the applications of this knowledge to combat human disease. The past 20 years has witnessed extensive research and progress in this area and scientists started to design new therapies harnessing individual genetic differences among patients to combat degenerative disorders and cancer. We summarize these advancements and discuss perspectives for the future of personalized medicine.
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Sep 022017
 

Genetics for Health Professionals in Cancer Care: From Principles to Practice


The role of genetics is becoming increasingly important in all aspects of healthcare and particularly in the field of cancer care. Genetics for Health Professionals in Cancer Care: From Principles to Practice equips health professionals with the knowledge and skills required for all aspects of managing cancer family history. This includes taking an accurate cancer family history and drawing a family tree; understanding cancer biology, basic cancer genetics and the genes involved in hereditary breast, ovarian, prostate, colorectal, gastric and related gynaecological cancers and rare cancer predisposing syndromes; assessing cancer risk and communicating risk information; early detection and risk reducing measures available for those at increased risk and managing individuals with hereditary cancer.

Drawing on experiences of health professionals, Genetics for Health Professionals in Cancer Care discusses the challenges raised and provides practical advice and insight into what happens when a patient is referred for genetic counselling and genetic testing, including the psychological, social and ethical issues faced by individuals and families with and at risk of hereditary cancer. The book also provides practical guidance on setting up a cancer family history clinic in primary and secondary care.

Genetics for Health Professionals in Cancer Care is essential reading for healthcare professionals working with cancer patients and their families, and is an ideal reference text for non-specialists working in cancer genetics.

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Aug 312017
 

The Role of Pendrin in Health and Disease: Molecular and Functional Aspects of the SLC26A4 Anion Exchanger


This book reviews the current state of knowledge on the genetics, molecular biology and physiology of pendrin, with a particular focus on pendrin dysfunction and the consequences for human health. 

Pendrin is a membrane transport protein expressed in the thyroid, inner ear, kidney and airways, and was recently found in a variety of other tissues and organs. Pendrin malfunction may cause a genetic disease called Pendred syndrome or non-syndromic deafness.

The book provides a thorough description of the multifaceted role of pendrin in human health and disease. As such, it offers an invaluable tool for physiology and pathology researchers, while also providing essential guidance for otorhinolaryngologists and endocrinologists in the diagnosis of Pendred syndrome and pendrin-related deafness.

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Aug 292017
 

Human Retrotransposons in Health and Disease


This unique book explores the role of retrotransposons in human health and disease. The ability of retrotransposons to affect the structure of human genes is recognized since the late 80’s. However, the advances of deep-sequencing technologies have shed new light on the extent of retrotransposon-mediated genome variations. These progresses have also led to the discovery that retrotransposon activity is not restricted to the germline – resulting in inheritable genetic variations – but can also mobilize in somatic tissues, such as embryonic stem cells, neuronal progenitor cells, or in many cancers. This book covers topics related to the effects of retrotransposon insertions, and their consequences on germline and somatic genome dynamics, but also discuss the role and impact of retrotransposons sequences in a broader context, including a number of novel topics that emerged recently (long non-coding RNA, neuronal disorders, exaptation) with unexpected connections between retrotransposons, stem cell maintenance, placentation, circadian cycles or aging.
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Aug 262017
 

Long Non Coding RNA Biology (Advances in Experimental Medicine and Biology)


This contributed volume offers a comprehensive and detailed overview of the various aspects of long non-coding RNAs and discusses their emerging significance. Written by leading experts in the field, it motivates young researchers around the globe, and offers graduate and postgraduate students fascinating insights into genes and their regulation in eukaryotes and higher organisms.

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Aug 142017
 

Atlas of Genetic Diagnosis and Counseling


By (author): Harold Chen

Dr. Harold Chen shares his almost 50 years of clinical genetics practice in this new edition of a comprehensive pictorial atlas, featuring almost 290 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available.

Since the publication of the previous edition in 2012, the atlas has been widely accepted and used in light of rapid progress in genetic and gnomic information. In this new edition, additional genetic disorders are added, as well as extensive updates to the previous disorders with new illustrations, supplemented by case and family history, clinical features, and laboratory data, especially molecular confirmation if available. The atlas is written in outline format for ease of use.

Atlas of Genetic Diagnosis and Counseling, Third Edition is of great value to medical geneticists, genetic counselors, pediatricians, neonatologists, developmental pediatricians, perinatologists, obstetricians, neurologists, pathologists, and any physicians and health care professionals caring for handicapped children such as craniofacial surgeons, plastic surgeons, otolaryngologists, and orthopedists. It is the definitive volume for helping all physicians to understand and recognize genetic diseases and malform

ation syndromes and better evaluate, counsel, and manage affected patients.

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Aug 092017
 

Genetic Skin Disorders (Oxford Monographs on Medical Genetics)


By (author): Virginia P. Sybert

This fully revised and updated edition of GENETIC SKIN DISORDERS reflects the most current understanding of the diagnosis, treatment, genetic basis, and differential diagnoses of inherited skin disorders. Organized with the needs of busy clinicians in mind, it offers detailed clinical guidance on the signs, symptoms, mode of inheritance, recurrence risk, and diagnosis of over 300 skin disorders, all in an accessible, at-a-glance format. Annotated bibliographies highlight the most relevant and up-to-date medical literature. Newly compiled lists of support groups, both national and international, for patients and their families supplement the ample resources for medical professionals.

Informed by the author’s extensive clinical experience and suffused with a distinctive, witty voice, GENETIC SKIN DISORDERS is an ideal companion in the laboratory, clinic, or consulting room.

FEATURES

· Includes both disease-based chapters and an appendix of skin signs that simplifies differential diagnosis for specialists and general practitioners alike
· More than 800 color photographs illustrate the full spectrum of hair, skin, and nail abnormalities
· Updated to reflect current classification of inherited skin disorders and the molecular underpinnings of these conditions

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Aug 082017
 

Genetic Skin Disorders (Oxford Monographs on Medical Genetics)


By (author): Virginia P. Sybert

This fully revised and updated edition of GENETIC SKIN DISORDERS reflects the most current understanding of the diagnosis, treatment, genetic basis, and differential diagnoses of inherited skin disorders. Organized with the needs of busy clinicians in mind, it offers detailed clinical guidance on the signs, symptoms, mode of inheritance, recurrence risk, and diagnosis of over 300 skin disorders, all in an accessible, at-a-glance format. Annotated bibliographies highlight the most relevant and up-to-date medical literature. Newly compiled lists of support groups, both national and international, for patients and their families supplement the ample resources for medical professionals.

Informed by the author’s extensive clinical experience and suffused with a distinctive, witty voice, GENETIC SKIN DISORDERS is an ideal companion in the laboratory, clinic, or consulting room.

FEATURES

· Includes both disease-based chapters and an appendix of skin signs that simplifies differential diagnosis for specialists and general practitioners alike
· More than 800 color photographs illustrate the full spectrum of hair, skin, and nail abnormalities
· Updated to reflect current classification of inherited skin disorders and the molecular underpinnings of these conditions

List Price: $195.00 USD
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Aug 062017
 

A Practical Guide to Human Cancer Genetics


By (author): Shirley V. Hodgson, William D. Foulkes, Charis Eng, Eamonn R. Maher

This is a comprehensive and up-to-date guide to the diagnosis, clinical features and management of inherited disorders conferring cancer susceptibility. It is fully updated with much molecular, screening and management information. It covers risk analysis and genetic counselling for individuals with a family history of cancer. It also discusses predictive testing and the organisation of the cancer genetics service. There is information about the genes causing Mendelian cancer predisposing conditions and their mechanism of action. It aims to provide such details in a practical format for geneticists and clinicians in all disciplines.
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