Emery And Rimoins Essential Medical Genetics

Download or read book Emery and Rimoin's Essential Medical Genetics written by David L. Rimoin and published by Elsevier. This book was released on 2013-05-15 with total page 647 pages. Available in PDF, EPUB and Kindle. Book excerpt: For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. Developed in parallel to the sixth edition, and featuring 174 original contributions from the many authors of the full set, this one volume work expertly condenses and synthesizes the most clinically relevant content, for convenient desk reference. Helping to bridge the gap between high-level molecular genetics and individual application, it follows the multi-volume set in encompassing scientific fundamentals, full spectrum discussion of major inherited disorders, and actionable therapies. Clinically oriented information is supported by concise descriptions of the principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease. This print volume is complemented and enhanced with online access to the complete text, online-only references, and high quality illustrations on www.expertconsult.com. Features 174 summarized contributions concisely discussing advances in cancer genetics, genomic technologies, and molecular genetics Contains hundreds of full colour illustrations supporting users with identification, concept illustration, and method processing Enhanced with full text online access, high quality illustrations, and online-only references at www.expertconsult.com

Download or read book Emery and Rimoin's Principles and Practice of Medical Genetics written by David L. Rimoin and published by . This book was released on 2007 with total page 1264 pages. Available in PDF, EPUB and Kindle. Book excerpt: "For decades, Emery and Rimoin's Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this 6e bridges the gap between high-level molecular genetics and individual application. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders. Clinically oriented information is supported by expanded sections on basic principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease. Over 250 of the world's most trusted authorities in medical genetics will contribute to the new release of the revised electronic edition of the work. Regular updates and the integration of teaching tools such as videos and graphics will distinguish this work from the competition. Links to sites such as Online Mendelian Inheritance in Man (OMIM) and similar sites that provide up-to-date information on human genes and genetic phenotypes will make this product the ultimate source for students, researchers, and practitioners alike."--Publisher's website.

Download or read book Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Elsevier. This book was released on 2024-10-23 with total page 1227 pages. Available in PDF, EPUB and Kindle. Book excerpt: For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics and genomics into medical practice. With detailed coverage in contributions from more than 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 sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for students, health providers, and researchers involved in the care of patients with genetic conditions, and increasingly, all areas of health and disease. This comprehensive yet practical resource emphasizes theory and research fundamentals related to the applications of medical genetics and genomics across the full spectrum of inherited disorders and applications to medicine more broadly. In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to developmental disorders, as well as genetic conditions that affect hearing and vision. Here genetic researchers, students, and health professionals will find new and fully revised chapters on human developmental genetics, disorders affecting craniofacial development, chromosomal abnormalities, including aneuploidies and structural abnormalities, hereditary hearing impairment, and various genetic conditions of the eye. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics, Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers. · Thoroughly introduces genetic researchers, students, and healthcare professionals to the principles of human developmental genetics · Examines a wide range of developmental disorders, including craniofacial development as well as disorders affecting hearing and vision · Includes color images supporting identification, concept illustration, and method processing · Features contributions by leading international researchers and practitioners of medical genetics

Download or read book Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Academic Press. This book was released on 2022-08-26 with total page 384 pages. Available in PDF, EPUB and Kindle. Book excerpt: Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Hematologic, Renal, and Immunologic Disorders, Seventh Edition thoroughly examines medical genetics and genomics as applied to hematologic, immunologic and endocrinologic disorders, with an emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods. Here, genetic researchers, students and health professionals will find new and fully revised chapters on the genetics of red blood cell diseases, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, and diabetes mellitus, as well as thyroid, parathyroid and gonad disorders, among other conditions. With regular advances in genomic technologies propelling precision medicine into the clinic, this book, which has served as the ultimate resource for clinicians integrating genetics into medical practice, continues to provide the most important information. 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, this updated edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. - Fully addresses medical genetics and genomics as applied to hematologic, immunologic and endocrinologic disorders, with an emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches and treatment methods - Provides genetic researchers, students and health professionals with new and updated chapters on the genetic basis of, and treatment pathways for, red blood cell disorders, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, diabetes mellitus, as well as thyroid, parathyroid and gonad disorders, among other conditions - Includes color images supporting identification, concept illustration and method processing - Features contributions by leading international researchers and practitioners of medical genetics - Includes a robust companion website that offers lecture slides, image banks and links to outside resources and articles to help readers stay up-to-date on the latest developments in the field

Download or read book Emery's Elements of Medical Genetics written by Robert F. Mueller and published by . This book was released on 2001 with total page 388 pages. Available in PDF, EPUB and Kindle. Book excerpt: Today's medical student needs to understand the principles of genetics rather than accumulate detailed facts. This text explains the essential themes of medical genetics whilst remaining in control of the developments in this subject.

Download or read book Essential Medical Genetics written by Michael Connor and published by Wiley-Blackwell. This book was released on 1997-04-29 with total page 248 pages. Available in PDF, EPUB and Kindle. Book excerpt: Essential Medical Genetics gives a balanced introduction to the basic principles of genetics and how it is applied to the understanding and treatment of diseases with a genetic component. Divided into two sections, basic principles and clinical applications, it covers the information that medical students are taught at the preclinical and clinical levels. This book has been written for clinicians, scientists, counselors and teachers--and any other professionals desiring an understanding of modern medical genetics.

Download or read book A Short History of Medical Genetics written by Peter S. Harper and published by Oxford University Press. This book was released on 2008 with total page 570 pages. Available in PDF, EPUB and Kindle. Book excerpt: "This book traces the development of genetics in medicine from the first descriptions of inherited diseases more than 300 years ago to the new applications resulting from mapping and sequencing the human genome. It follows both the scientific and the medical advances, focusing especially on those of the past 50 years, which have seen the field of medical genetics emerge as one of the foremost and most rapidly changing medical specialties, now influencing the whole of medicine. It also examines the ethical challenges faced by those working in the field, and describes some of the past disasters that have resulted from these being ignored, notably the abuses of eugenics and the catastrophic destruction of genetics in Soviet Russia. This is the first book of its kind; it is clearly and simply written, and will be valuable to all those who have an interest or concern in the development of medical genetics, as well as those actually working in the field. Historians and social scientists will likewise find this book an important foundation for future detailed studies, which are urgently needed."--BOOK JACKET.