Download or read book The Human Gene Mutation Database HGMD written by and published by . This book was released on 1997 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: The human gene mutation database comprises various types of mutation within the coding regions of human nuclear genes causing inherited disease.
Download or read book Human Gene Mutation written by David N. Cooper and published by Taylor & Francis. This book was released on 1995 with total page 412 pages. Available in PDF, EPUB and Kindle. Book excerpt: Within the last decade, much progress has been made in the analysis and diagnosis of human inherited disease, and in the characterization of the underlying genes and their associated pathological lesions.
Download or read book The Human Gene Mutation Database written by and published by . This book was released on 1997 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: A comprehensive collection of data on germ-line mutations in nuclear genes that are associated or causative of human inherited disease. Site provides search access by disease, gene name, or gene symbol.
Download or read book Human Gene Mutation written by David Neil Cooper and published by Taylor & Francis. This book was released on 1993 with total page 424 pages. Available in PDF, EPUB and Kindle. Book excerpt: Within the last decade, much progress has been made in the analysis and diagnosis of human inherited disease, and in the characterization of the underlying genes and their associated pathological lesions.
Download or read book Human Gene Mutation Database written by and published by . This book was released on with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Features the Human Gene Mutation Database, presented by the Institute of Medical Genetics within the College of Medicine of the University of Wales. Allows users to search the database. Notes that the database comprises various types of mutation within the coding regions of human nuclear genes causing inherited disease.
Download or read book The Thalassaemia Syndromes written by David J. Weatherall and published by John Wiley & Sons. This book was released on 2008-04-30 with total page 864 pages. Available in PDF, EPUB and Kindle. Book excerpt: In the new edition of this successful and authoritative book, the thalassaemias are reviewed in detail with respect to their clinical features, cellular pathology, molecular genetics, prevention and treatment. It is aimed at specialists in haematology in the laboratory or clinical setting, particularly in areas where thalassaemia is common either in the native population or in immigrant communities. The fourth edition has been both updated and re-organized. Three new chapters have been added on the link between alpha-thalassaemia and mental retardation, on avoidance and population control and on global epidemiology. Considerable emphasis is placed on molecular pathology reflecting the huge burst of information to have come out of this field in the last few years.
Download or read book Dilated Cardiomyopathy written by Gianfranco Sinagra and published by Springer. This book was released on 2019-05-17 with total page 241 pages. Available in PDF, EPUB and Kindle. Book excerpt: This open access book presents a comprehensive overview of dilated cardiomyopathy, providing readers with practical guidelines for its clinical management. The first part of the book analyzes in detail the disease’s pathophysiology, its diagnostic work up as well as the prognostic stratification, and illustrates the role of genetics and gene-environment interaction. The second part presents current and future treatment options, highlighting the importance of long-term and individualized treatments and follow-up. Furthermore, it discusses open issues, such as the apparent healing phenomenon, the early prognosis of arrhythmic events or the use of genetic testing in clinical practice. Offering a multidisciplinary approach for optimizing the clinical management of DCM, this book is an invaluable aid not only for the clinical cardiologists, but for all physicians involved in the care of this challenging disease.
Download or read book Molecular Genetic Pathology written by Liang Cheng and published by Springer. This book was released on 2013-03-05 with total page 1136 pages. Available in PDF, EPUB and Kindle. Book excerpt: Molecular Genetic Pathology, Second Edition presents up-to-date material containing fundamental information relevant to the clinical practice of molecular genetic pathology. Fully updated in each area and expanded to include identification of new infectious agents (H1N1), new diagnostic biomarkers and biomarkers for targeted cancer therapy. This edition is also expanded to include the many new technologies that have become available in the past few years such as microarray (AmpliChip) and high throughput deep sequencing, which will certainly change the clinical practice of molecular genetic pathology. Part I examines the clinical aspects of molecular biology and technology, genomics. Poharmacogenomics and proteomics, while Part II covers the clinically relevant information of medical genetics, hematology, transfusion medicine, oncology, and forensic pathology. Supplemented with many useful figures and presented in a helpful bullet-point format, Molecular Genetic Pathology, Second Edition provides a unique reference for practicing pathologists, oncologists, internists, and medical genetisists. Furthermore, a book with concise overview of the field and highlights of clinical applications will certainly help those trainees, including pathology residents, genetics residents, molecular pathology fellows, internists, hematology/oncology fellows, and medical technologists in preparing for their board examination/certification.
Download or read book Molecular Epidemiology written by Paul A. Schulte and published by Academic Press. This book was released on 2012-12-02 with total page 609 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book will serve as a primer for both laboratory and field scientists who are shaping the emerging field of molecular epidemiology. Molecular epidemiology utilizes the same paradigm as traditional epidemiology but uses biological markers to identify exposure, disease or susceptibility. Schulte and Perera present the epidemiologic methods pertinent to biological markers. The book is also designed to enumerate the considerations necessary for valid field research and provide a resource on the salient and subtle features of biological indicators.
Download or read book Inside the Human Genome written by John C. Avise and published by Oxford University Press. This book was released on 2010-02-12 with total page 240 pages. Available in PDF, EPUB and Kindle. Book excerpt: Humanity's physical design flaws have long been apparent--we get hemorrhoids and impacted wisdom teeth, for instance--but do the imperfections extend down to the level of our genes? Inside the Human Genome is the first book to examine the philosophical question of why, from the perspectives of biochemistry and molecular genetics, flaws exist in the biological world. Distinguished evolutionary geneticist John Avise offers a panoramic yet penetrating exploration of the many gross deficiencies in human DNA--ranging from mutational defects to built-in design faults--while at the same time offering a comprehensive treatment of recent findings about the human genome. The author shows that the overwhelming scientific evidence for genomic imperfection provides a compelling counterargument to intelligent design. He also develops a case that theologians should welcome rather than disavow these discoveries. The evolutionary sciences can help mainstream religions escape the shackles of Intelligent Design, and thereby return religion to its rightful realm--not as the secular interpreter of the biological minutiae of our physical existence, but rather as a respectable philosophical counselor on grander matters of ultimate concern.
Download or read book Inborn Metabolic Diseases written by K. Tada and published by Springer Science & Business Media. This book was released on 2013-03-14 with total page 421 pages. Available in PDF, EPUB and Kindle. Book excerpt: Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.
Download or read book Oxford Handbook of Genetics written by Guy Bradley-Smith and published by Oxford University Press, USA. This book was released on 2010 with total page 486 pages. Available in PDF, EPUB and Kindle. Book excerpt: This handbook provides accessible information on specific genetic diseases, and possible genetic components of major diseases, for the primary health care team and junior doctor in training. It assists with why, when, and where to refer patients, and affected families, to get the best advice about genetic disease.
Download or read book Digital Transformation written by Reimund Neugebauer and published by Springer. This book was released on 2019-05-14 with total page 396 pages. Available in PDF, EPUB and Kindle. Book excerpt: With the exception of written letters and personal conversations, digital technology forms the basis of nearly every means of communication and information that we use today. It is also used to control the essential elements of economic, scientific, and public and private life: security, production, mobility, media, and healthcare. Without exaggerating it is possible to say that digital technology has become one of the foundations of our technologically oriented civilization. The benefits of modern data technology are so impressive and the potential for future applications so enormous that we cannot fail to promote its development if we are to retain our leading role in the competitive international marketplace. In this process, security plays a vital role in each of the areas of application of digital technology — the more technological sectors are entrusted to data systems technology, the more important their reliability becomes to us. Developing digital systems further while simultaneously ensuring that they always act and respond in the best interests of people is a central goal of the technological research and development propagated and conducted by Fraunhofer.
Download or read book Computational Cardiology written by Frank B. Sachse and published by Springer. This book was released on 2005-01-12 with total page 364 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is devoted to computer-based modeling in cardiology, by taking an educational point of view, and by summarizing knowledge from several, commonly considered delimited areas of cardiac research in a consistent way. First, the foundations and numerical techniques from mathematics are provided, with a particular focus on the finite element and finite differences methods. Then, the theory of electric fields and continuum mechanics is introduced with respect to numerical calculations in anisotropic biological media. In addition to the presentation of digital image processing techniques, the following chapters deal with particular aspects of cardiac modeling: cardiac anatomy, cardiac electro physiology, cardiac mechanics, modeling of cardiac electro mechanics. This book was written for researchers in modeling and cardiology, for clinical cardiologists, and for advanced students.
Download or read book Liver Disease in Children written by Frederick J. Suchy and published by Cambridge University Press. This book was released on 2021-03-18 with total page 875 pages. Available in PDF, EPUB and Kindle. Book excerpt: Liver disease in children is increasing in prevalence, placing a huge burden on healthcare systems and often requiring long-term management. Offering an integrative approach to the science and clinical practice of pediatric hepatology, this is the definitive reference text for improved diagnosis and treatment strategies. In the new edition of this authoritative text, chapters have been thoroughly revised in line with major advances in the field, such as recognizing the increased frequency of fatty liver disease, and how genetic testing has the potential to establish earlier diagnoses for a variety of diseases. Disorders covered include cholestasis, metabolic disorders and hepatitis, with their presentation across the spectrum of infancy, childhood and adolescence discussed. The indications and surgical aspects of liver transplant are explained and post-transplant care is described in detail. This is a valuable resource for pediatricians, hepatologists, gastroenterologists and all clinicians involved in the care of children with liver diseases.
Download or read book Vogel and Motulsky s Human Genetics written by Michael Speicher and published by Springer Science & Business Media. This book was released on 2009-11-26 with total page 1006 pages. Available in PDF, EPUB and Kindle. Book excerpt: The fourth edition of this classical reference book can once again be relied upon to present a cohesive and up-to-date exposition of all aspects of human and medical genetics. Human genetics has become one of the main basic sciences in medicine, and molecular genetics is increasingly becoming a major part of this field. This new edition integrates a wealth of new information - mainly describing the influence of the "molecular revolution" - including the principles of epigenetic processes which together create the phenotype of a human being. Other revisions are an improved layout, sub-division into a larger number of chapters, as well as two-colour print throughout for ease of reference, and many of the figures are now in full colour. For graduates and those already working in medical genetics.
Download or read book Mendelian Inheritance in Man written by Victor Almon McKusick and published by . This book was released on 1998 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Describes individual genes and/or phenotypes representing individual genes.
