Medical Genetics Principles And Practice

Author : David L. Rimoin,Alan E. H. Emery
Publisher : Unknown
Page : 1264 pages
File Size : 52,6 Mb
Release : 2007
Category : Genetic disorders
ISBN : UCLA:L0099470627

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Emery and Rimoin's Principles and Practice of Medical Genetics by David L. Rimoin,Alan E. H. Emery Pdf

"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.

Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Publisher : Academic Press
Page : 320 pages
File Size : 43,9 Mb
Release : 2021-11-02
Category : Science
ISBN : 9780128152379

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Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics by Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody Pdf

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh 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 in this growing field. The book is ideal for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive, yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies. Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications Examines key topics and developing methods within genomic testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies Includes color images that support the identification, concept illustration, and method of processing Features contributions by leading international researchers and practitioners of medical genetics Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field

Author : David L. Rimoin,Reed E. Pyeritz,Bruce Korf
Publisher : Elsevier
Page : 647 pages
File Size : 49,7 Mb
Release : 2013-05-15
Category : Science
ISBN : 9780124169821

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Emery and Rimoin's Essential Medical Genetics by David L. Rimoin,Reed E. Pyeritz,Bruce Korf Pdf

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

Author : Dhavendra Kumar,Charis Eng
Publisher : Oxford Monographs on Medical G
Page : 853 pages
File Size : 50,9 Mb
Release : 2014-10-15
Category : Medical
ISBN : 9780199896028

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Genomic Medicine by Dhavendra Kumar,Charis Eng Pdf

Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

Author : G. Bradley Schaefer,Thompson Jr.
Publisher : McGraw Hill Professional
Page : 452 pages
File Size : 54,5 Mb
Release : 2013-11-22
Category : Medical
ISBN : 9780071819282

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Medical Genetics by G. Bradley Schaefer,Thompson Jr. Pdf

A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as: The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes Each chapter of Medical Genetics is logically organized into three sections: Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.

Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Publisher : Academic Press
Page : 384 pages
File Size : 45,7 Mb
Release : 2022-08-26
Category : Medical
ISBN : 9780128126820

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Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics by Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody Pdf

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

Author : Alan E. H. Emery,David L. Rimoin
Publisher : Unknown
Page : 1733 pages
File Size : 48,7 Mb
Release : 1998-04-01
Category : Medical
ISBN : 0443075352

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Emery and Rimoin's Principles and Practice of Medical Genetics by Alan E. H. Emery,David L. Rimoin Pdf

Author : John I. Gallin,Frederick P Ognibene
Publisher : Elsevier
Page : 448 pages
File Size : 44,5 Mb
Release : 2011-04-28
Category : Medical
ISBN : 0080489567

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Principles and Practice of Clinical Research by John I. Gallin,Frederick P Ognibene Pdf

The second edition of this innovative work again provides a unique perspective on the clinical discovery process by providing input from experts within the NIH on the principles and practice of clinical research. Molecular medicine, genomics, and proteomics have opened vast opportunities for translation of basic science observations to the bedside through clinical research. As an introductory reference it gives clinical investigators in all fields an awareness of the tools required to ensure research protocols are well designed and comply with the rigorous regulatory requirements necessary to maximize the safety of research subjects. Complete with sections on the history of clinical research and ethics, copious figures and charts, and sample documents it serves as an excellent companion text for any course on clinical research and as a must-have reference for seasoned researchers. *Incorporates new chapters on Managing Conflicts of Interest in Human Subjects Research, Clinical Research from the Patient's Perspective, The Clinical Researcher and the Media, Data Management in Clinical Research, Evaluation of a Protocol Budget, Clinical Research from the Industry Perspective, and Genetics in Clinical Research *Addresses the vast opportunities for translation of basic science observations to the bedside through clinical research *Delves into data management and addresses how to collect data and use it for discovery *Contains valuable, up-to-date information on how to obtain funding from the federal government

Author : Wendy R. Uhlmann,Jane L. Schuette,Beverly Yashar
Publisher : John Wiley & Sons
Page : 644 pages
File Size : 48,5 Mb
Release : 2011-09-20
Category : Medical
ISBN : 9781118210536

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A Guide to Genetic Counseling by Wendy R. Uhlmann,Jane L. Schuette,Beverly Yashar Pdf

The first book devoted exclusively to the principles and practice of genetic counseling—now in a new edition First published in 1998, A Guide to Genetic Counseling quickly became a bestselling and widely recognized text, used nationally and internationally in genetic counseling training programs. Now in its eagerly anticipated Second Edition, it provides a thoroughly revised and comprehensive overview of genetic counseling, focusing on the components, theoretical framework, and unique approach to patient care that are the basis of this profession. The book defines the core competencies and covers the genetic counseling process from case initiation to completion—in addition to addressing global professional issues—with an emphasis on describing fundamental principles and practices. Chapters are written by leaders in the field of genetic counseling and are organized to facilitate academic instruction and skill attainment. They provide the most up-to-date coverage of: The history and practice of genetic counseling Family history Interviewing Case preparation and management Psychosocial counseling Patient education Risk communication and decision-making Medical genetics evaluation Understanding genetic testing Medical documentation Multicultural counseling Ethical and legal issues Student supervision Genetic counseling research Professional development Genetics education and outreach Evolving roles and expanding opportunities Case examples A Guide to Genetic Counseling, Second Edition belongs on the syllabi of all medical and human genetics and genetic counseling training programs. It is an indispensable reference for both students and healthcare professionals working with patients who have or are at risk for genetic conditions.

Author : American Academy of Pediatrics
Publisher : Unknown
Page : 0 pages
File Size : 54,9 Mb
Release : 2013
Category : Genetic screening
ISBN : 1581104960

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Medical Genetics in Pediatric Practice by American Academy of Pediatrics Pdf

Embodying current Policy of the American Academy of Pediatrics (AAP), this all-new resource provides practice-focused help for addressing virtually any genetics-related issue you're likely to confront. It's replete with expert insights, pediatric-specific solutions, and quick-access aids you won't find anywhere else. Consult this one-stop problem-solver for: - Must-know basics on genetic processes, inheritance patterns, and genetic testing - Concise summaries of common genetic disorders - Recognition, evaluation, diagnosis, and treatment how-to's - Illuminating images of anomalies that may indicate genetic conditions - Case-based examples of ethical issues Here's the how, why, where, and when of pediatric genetic care: - How to recognize diverse genetic disorders - How to take a complete genetic history - How to spot at-risk patients - Why to create a pedigree - When to consider a genetic evaluation - How to conduct genetic screening and testing - How to identify appropriate therapeutic approaches - Where to find critical resources - When to refer to a geneticist - And much more

Author : Lynn B. Jorde
Publisher : Unknown
Page : 392 pages
File Size : 53,7 Mb
Release : 2006
Category : Genetic disorders
ISBN : UOM:39015063152527

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Medical Genetics by Lynn B. Jorde Pdf

'Medical Genetics' offers up-to-date information on modern genetics. This comprehensive study includes the latest findings from genetic research and how that knowledge can be used in clinical practice.

Author : Edward S. Tobias,J. Michael Connor
Publisher : Cambridge University Press
Page : 145 pages
File Size : 42,8 Mb
Release : 2014-03-20
Category : Medical
ISBN : 9781107661301

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Medical Genetics for the MRCOG and Beyond by Edward S. Tobias,J. Michael Connor Pdf

Clear, understandable and concise with an accompanying internet guide, this is an unbeatable resource for learning, revision and staying up to date.

Author : Anonim
Publisher : Unknown
Page : 1557 pages
File Size : 45,9 Mb
Release : 2002
Category : Electronic
ISBN : OCLC:633943052

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Emery and Rimoin's Principles and Practice of Medical Genetics by Anonim Pdf

Author : Cees Bos
Publisher : CRC Press
Page : 460 pages
File Size : 55,8 Mb
Release : 2020-11-25
Category : Science
ISBN : 9781000148923

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Fungal Genetics by Cees Bos Pdf

This is a concise guide to the combined use of classical and molecular methods for the genetic analysis and breeding of fungi. It presents basic concepts and experimental designs, and demonstrates the power of fungal genetics for applied research in biotechnology and phytopathology. Case studies of Saccharomyces cerevisiae, Candida albicans, Aspergillus niger, Neurospora crassa, Podospora anserina, Phytophthora infestans and others are included.

Author : Dhavendra Kumar,David Weatherall
Publisher : Oxford University Press
Page : 672 pages
File Size : 51,8 Mb
Release : 2008-02-15
Category : Medical
ISBN : 0199720053

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Genomics and Clinical Medicine by Dhavendra Kumar,David Weatherall Pdf

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, prognostication,and prediction of treatment outcomes in various areas of medicine. After building a strong underpinning in the basic concepts of genomics, the authors of this book, all leaders in the field, proceed to discuss a wide range of clinical areas and the applications now afforded by genomic analysis.