Clinical Ophthalmic Genetics and Genomics

• Author : Graeme C.M. Black,Jane L. Ashworth,Bart P. Leroy,Panagiotis I. Sergouniotis
• Publisher : Elsevier
• Release : 20 January 2022

Practical Genomics for Clinical Ophthalmology provides in-depth coverage of the clinical applications of genomics in eye disease, with a key emphasis on case-study based instruction in patient care and genetic counseling aspects, genetic and genomic diagnostics, and treatment pathways. The book presents the latest information on genetic and genomic test results, best practices for delivery of results to patients and families, and ongoing research into therapeutics, with specific chapters covering non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal

• Author : Graeme C.M. Black,Jane L. Ashworth,Panagiotis I. Sergouniotis
• Publisher : Academic Press
• Release : 18 January 2022

Clinical Ophthalmic Genetics and Genomics provides an accessible, clinically-focused reference for the evolving field of Genetic Ophthalmology. This well-organised, easy-to-read textbook integrates key concepts with clinical practice and is designed to enhance effective learning and retention of complex material. It includes contributions from recognised leaders in the field and provides expert guidance on the complete spectrum of genetic ophthalmic disorders. A structured introductory section offering a practical guide to the processes involved in diagnosing patients with genetic ophthalmic disorders Expert

• Author : Dhavendra Kumar,Charis Eng
• Publisher : Oxford University Press
• Release : 26 September 2014

The first edition of Genomics and Clinical Medicine provided an overview of genomics-based advances in disease susceptibility, diagnosis, and prediction of treatment outcomes in various areas of medicine. Since its publication, the science of genomics has made tremendous progress, and exciting new developments in biotechnology and bioinformatics have created possibilities that were inconceivable only a few years ago. This completely revised second edition of Genomic Medicine reflects the rapidly changing face of applied and translational genomics in the medical and

• Author : Dhavendra Kumar,Perry Elliott
• Publisher : Springer
• Release : 17 January 2018

This title reflects the exponential growth in the knowledge and information on this subject and defines the extensive clinical translation of cardiovascular genetics and genomics in clinical practice. This concise, clinically oriented text is targeted at a broad range of clinicians who manage patients and families with a wide range of heterogeneous inherited cardiovascular conditions. Cardiovascular Genetics and Genomics: Principles and Clinical Practice includes a concise and clear account on selected topics written by a team of leading experts on

• Author : Dhavendra Kumar,David Weatherall
• Publisher : Oxford University Press
• Release : 15 February 2008

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 has also laid the foundation for a broad range of genomic tools that have opened the way for targeted genetic testing in a number of medical disorders. This book is designed to be the first major text to discuss genomics-based advances in disease susceptibility, diagnosis,

• Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
• Publisher : Academic Press
• Release : 30 September 2020

For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world’s most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics,

• Author : Michael F. Murray (Physician),Mark Babyatski, MD,Monica A. Giovanni,Fowzan S. Alkuraya,Douglas R. Stewart
• Publisher : McGraw Hill Professional
• Release : 07 November 2013

The first book on the clinical application of genetics in primary care medicine, Clinical Genomics focuses on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. Unlike traditional textbooks on medical genetics and dysmorphology, this is a clinical reference that covers many of the common diseases seen in everyday medical practice. Features: endorsed by the American College of Physicians; addresses the genetic basis of common chronic diseases, not just the classic diseases of

• Author : Yu Liu
• Publisher : CRC Press
• Release : 20 June 2014

This book serves as an introduction to genomics, proteomics, and transcriptomics, putting these fields in relation to human disease and ailments. The various chapters consider the role of translation and personalized medicine, as well as pathogen detection, evolution, and infection, in relation to genomics, proteomics, and transcriptomics. The topic of companion diagnostics is also covered. The book is broken into five sections. Part I examines the connection between omics and human disease. Part II looks at the applications for the

• Author : Daniel M. Albert,Joan W. Miller,Dimitri T. Azar,Barbara A. Blodi
• Publisher : Elsevier Health Sciences
• Release : 27 February 2008

Inside the 3rd edition of this esteemed masterwork, hundreds of the most distinguished authorities from around the world provide today's best answers to every question that arises in your practice. They deliver in-depth guidance on new diagnostic approaches, operative technique, and treatment option, as well as cogent explanations of every new scientific concept and its clinical importance. With its new streamlined, more user-friendly, full-color format, this 3rd edition makes reference much faster, easier, and more versatile. More than ever, it's

• Author : Sylvia Ann Metcalfe,Clara Gaff,Michael Dougherty
• Publisher : Frontiers Media SA
• Release : 09 October 2020

This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own

• Author : Robert A Copeland Jr
• Publisher : JP Medical Ltd
• Release : 28 February 2013

The cornea is the transparent front part of the eye covering the iris and the pupil, allowing light to enter and covering two thirds of the eye’s focusing tasks. This two volume set is a comprehensive guide to the latest research and techniques for the cornea. Beginning with basic science, examination techniques and epidemiology, the following chapters discuss the diagnosis and the medical and surgical treatment of numerous different conditions and diseases that may affect the cornea. Written by

• Author : Ching-Yu Cheng,Tien Yin Wong
• Publisher : CRC Press
• Release : 25 May 2022

Ophthalmic Epidemiology: Current Concepts to Digital Strategies provides a comprehensive guide to graduate students, ophthalmologists, and researchers in ophthalmic epidemiology. It covers recently developed new methodologies, technologies and resources in ocular epidemiological research, such as telemedicine, disease registries, EMR, bio-banks and omics. This book also summarizes recent epidemiological findings and provides up-to-date data on ocular diseases. Furthermore, it introduces and discusses the uses of epidemiology in the evaluation of health services and population screening programs and reviews the application of

• Author : Mark E. Frisse MD, MS, MBA,Karl E. Misulis MD, PhD
• Publisher : Oxford University Press
• Release : 15 April 2019

Essentials of Clinical Informatics provides a concise and user-friendly overview on important topics such as technical infrastructure, team members and their roles, informatics methods, policies and laws, implementation, and operations. With increased interest in training and expertise in order to participate in all aspects of medical technology from basic function of electronic health record to data analytics and quality improvement to population health, this work serves as a foundational guide to better understand and analyze medical data. The book is

• Author : Gyan Prakash,Takeshi Iwata
• Publisher : Springer
• Release : 03 November 2018

This second volume continues with a focus on the state of the art in genetic eye research in Asia and the Pacific. Though there has been an explosion of information on genetic eye research in western countries, more than sixty percent of the human genes involved in eye diseases in the Asian and Pacific population remain unknown. However, new efforts and a new awareness have sparked important discussions on the subject, and new plans are being implemented to discover the

• Author : Christine E. Kasper, PhD, RN, FAAN, FACSM,Tonya A. Schneidereith, PhD, CRNP, PPCNP-BC, CPNP-AC,Felissa R. Lashley, PhD, RN, FABMGG
• Publisher : Springer Publishing Company
• Release : 16 September 2015

Completely updated to help nurses learn to ìthink geneticallyî Todayís nurses must be able to ìthink geneticallyî to help individuals and families who are affected by genetic disease or contemplating genetic testing. This book is a classic resource for nursing students and practitioners at all levels who need to acquire the knowledge and skills for using genomics in their practice. This completely updated second edition encompasses the many recent advances in genetic research and knowledge, providing essential new information