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Medical Genetics

Medical Genetics
A Book

by G.P. PAL

  • Publisher : AITBS Publishers India
  • Release : 2009
  • Pages : 207
  • ISBN : 8174734015
  • Language : En, Es, Fr & De
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The subject of genetics is gaining utmost importance in the medical science. However, most of the medical students find this subject difficult to understand and therefore, neglect it. The aim of this book is to present the text in such a way that it provides the clear and conceptual understanding of the subject. A simple and concise account of the genetic basis of various diseases, cancers and embryonic development is given to make the subject directly applicable to the medical science. It is hoped that the undergraduate and postgraduate students of medical science and clinicians will find this book interesting and useful.

Medical Genetics at a Glance

Medical Genetics at a Glance
A Book

by Dorian J. Pritchard,Bruce R. Korf

  • Publisher : John Wiley & Sons
  • Release : 2013-09-23
  • Pages : 232
  • ISBN : 9780470656549
  • Language : En, Es, Fr & De
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Medical Genetics at a Glance covers the core scientific principles necessary for an understanding of medical genetics and its clinical applications, while also considering the social implications of genetic disorders. This third edition has been fully updated to include the latest developments in the field, covering the most common genetic anomalies, their diagnosis and management, in clear, concise and revision-friendly sections to complement any health science course. Medical Genetics at a Glance now has a completely revised structure, to make its content even more accessible. Other features include: ? Three new chapters on Gene Identification, The Biology of Cancer, and Genomic Approaches to Cancer ? A much extended treatment of Biochemical Genetics ? A completely revised chapter on The Cell Cycle, explaining principles of biochemistry and genetics which are fundamental to understanding cancer causation ? Two new chapters on Cardiac Developmental Pathology ? An extended Case Studies section Providing a broad understanding of one of the most rapidly progressing topics in medicine, Medical Genetics at a Glance is perfect for students of medicine, molecular biology, genetics and genetic counselling, and is a previous winner of a BMA Award.

Principles of Medical Genetics

Principles of Medical Genetics
A Book

by Thomas D. Gelehrter,Francis S. Collins,David Ginsburg

  • Publisher : Lippincott Williams & Wilkins
  • Release : 1998
  • Pages : 410
  • ISBN : 9780683034455
  • Language : En, Es, Fr & De
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Emery's Elements of Medical Genetics E-Book

Emery's Elements of Medical Genetics E-Book
A Book

by Peter D Turnpenny,Sian Ellard

  • Publisher : Elsevier Health Sciences
  • Release : 2016-11-30
  • Pages : 486
  • ISBN : 0702066893
  • Language : En, Es, Fr & De
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Everything a student needs to know about medical genetics is here in the 15th edition of this award-winning textbook. Thoroughly updated and revised throughout to map a fast-moving area, the 15th edition continues Emery’s enviable reputation for successfully balancing up-to-dateness in a rapidly developing field with a strong basis in practical clinical genetics for medical students. With MCQs and Case-Based Review Questions, end of chapter summaries, it is the essential tool for this complex but foundational topic for all medical undergraduates, as well as postgraduates seeking to improve their understanding and knowledge. Divided into three restructured sections to make the book easier to use for a variety of readers: Scientific Basis of Human Genetics; Genetics in Medicine and Genomic Medicine; Clinical Genetics, Counselling and Ethics •Interactive self-assessment questions •Case-based questions •Online hyperlinks to important genetics websites and clinical databases. •Update of clinical figures to include more full-colour images •An extensive glossary of terms •Full colour art to visualise the appearance of genetic disorders and assist with the understanding of complex genetic structures •Explore the social, ethical and counselling issues surrounding the study and treatment of genetic disorders. •Elements boxes at the end of each chapter summarizing the basics at a glance.

Emery and Rimoin's Essential Medical Genetics

Emery and Rimoin's Essential Medical Genetics
A Book

by David L. Rimoin,Reed E. Pyeritz,Bruce Korf

  • Publisher : Elsevier
  • Release : 2013-05-15
  • Pages : 646
  • ISBN : 0124169821
  • Language : En, Es, Fr & De
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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

Medical Genetics for the Modern Clinician

Medical Genetics for the Modern Clinician
A Book

by Judith A. Westman

  • Publisher : Lippincott Williams & Wilkins
  • Release : 2006
  • Pages : 196
  • ISBN : 9780781757607
  • Language : En, Es, Fr & De
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Medical Genetics for the Modern Clinician is a concise, clinically oriented introductory genetics text for medical and allied health students, residents, and clinicians. The book focuses sharply on concepts that are most applicable to clinical practice. Ethics sections in each chapter discuss ethical issues facing today's practitioner, such as counseling, risk assessment, and testing. More than 120 illustrations help students visualize concepts. Each chapter ends with USMLE-style review questions. Appendices include a glossary and a Table of Genes that lists all genes covered in the text by chapter. Faculty resources, case studies, and downloadable full-color images will be available on connection.LWW.com/go/westman.

Untitled

Untitled
A Book

by Anonim

  • Publisher : Unknown Publisher
  • Release : 2021
  • Pages : 129
  • ISBN : 1284154246
  • Language : En, Es, Fr & De
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Medical Genetics E-Book

Medical Genetics E-Book
A Book

by Lynn B. Jorde,John C. Carey,Michael J. Bamshad

  • Publisher : Elsevier Health Sciences
  • Release : 2009-10-06
  • Pages : 368
  • ISBN : 0323075762
  • Language : En, Es, Fr & De
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Medical Genetics is the clearest and most concise text on the subject, providing state-of-the-art coverage of clinically relevant molecular genetics. Lynn B. Jorde, PhD; John C. Carey, MD; and Michael J. Bamshad, MD integrate recent developments with clinical practice and emphasize the central principles of genetics and their clinical applications. Now in full color, this edition provides you with the stunning visual clarity so important in this field. Get the very latest on hot topics like gene identification, cancer genetics, gene testing and gene therapy, common diseases, ethical and social issues, personalized medicine, and much more. This is an indispensable resource that should be on every reading list. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included. . Features mini-summaries, study questions, suggested reading, and a detailed glossary to supplement and reinforce what you learn from the text. Demonstrates clinical relevance through over 230 photographs, illustrations, and tables, along with boxes containing patient/family vignettes. Enhances the visual impact of the material with full-color illustrations throughout the text for easier and more effective learning and retention. Presents a new chapter on genomics and personalized medicine for the latest on these hot topics. Provides you with the latest knowledge and research on gene identification, cancer genetics, gene testing and gene therapy, common disorders, ethical and social issues, and much more so you can keep up with current developments in genetics. Includes study questions at the end of every chapter so you can test yourself and retain the material. Features additional clinically commentary boxes throughout the text to show the relevance of genetics to everyday patient problems to prepare you for problem-based integrated courses.

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics
Perinatal and Reproductive Genetics

by Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody

  • Publisher : Academic Press
  • Release : 2021-11-02
  • Pages : 318
  • ISBN : 0128152370
  • Language : En, Es, Fr & De
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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

Emery's Elements of Medical Genetics

Emery's Elements of Medical Genetics
A Book

by Peter D. Turnpenny,Sian Ellard

  • Publisher : Churchill Livingstone
  • Release : 2012
  • Pages : 445
  • ISBN : 9780702040436
  • Language : En, Es, Fr & De
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Master the genetics you need to know with the updated 14th Edition of Emery's Elements of Medical Genetics by Drs. Peter Turnpenny and Sian Ellard. Review the field's latest and most important topics with user-friendly coverage designed to help you better understand and apply the basic principles of genetics to clinical situations. Learning is easy with the aid of clear, full-color illustrative diagrams, a wealth of clinical photographs of genetic diseases, multiple-choice and case-based review questions, end-of-chapter summaries, and convenient online access at www.studentconsult.com. With this highly visual, award-winning classic in your hands, you have all the genetics knowledge you need for exams or practice. Get a broad view of medical genetics with a unique three-part structure that looks at the Principles of Human Genetics, Genetics in Medicine, and Clinical Genetics. Visualize the appearance of genetic disorders with a fantastic art program that presents many clinical photos of genetic diseases, and work through complicated ideas with an array of full-color illustrative diagrams. Master the material you need to know with a title preferred by faculty and students alike over the last three decades and awarded the British Medical Association Medial Student Textbook of the Year in 2008. Search the entire contents online at www.studentconsult.com, including 150 USMLE-style multiple choice questions to aid study and self-testing. Apply the latest research with chapters on developmental genetics, cancer genetics, prenatal testing and reproduction genetics, 'clonal' sequencing, and more. Understand complex concepts with the help of an increased number of diagrams. Be fully aware of social, ethical, and counseling issues by reviewing an improved section on these topics.

Handbook of Epigenetics

Handbook of Epigenetics
The New Molecular and Medical Genetics

by Trygve Tollefsbol

  • Publisher : Academic Press
  • Release : 2017-06-01
  • Pages : 600
  • ISBN : 9780128053881
  • Language : En, Es, Fr & De
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Handbook of Epigenetics, 2nd Edition provides a comprehensive analysis of epigenetics from basic biology to clinical application. Epigenetics is considered by many to be the "new genetics" in that many biological phenomena are controlled not through gene mutations, but rather through reversible and heritable epigenetic processes. These epigenetic processes range from DNA methylation to prions. The biological processes impacted by epigenetics are vast and encompass effects in lower organisms to humans that include tissue and organ regeneration, X-chromosome inactivation, stem cell differentiation, genomic imprinting and aging to name just a few functions of epigenetics. Aberrations of epigenetics influence many diseases involving, but not limited to cancer, immune disorders, neurological and metabolic disorders and imprinting diseases. Clinical intervention is already in place for some of these disorders and many novel epigenetic therapies are likely on the horizon. The first edition of Handbook of Epigenetics received excellent reviews. This second edition adds more current research and new topics based on customer and reader reviews, including new discoveries, approved therapeutics, and clinical trials. From molecular mechanisms and epigenetic technology to discoveries in human disease and clinical epigenetics, the nature and applications of the science is presented for those with interests ranging from the fundamental basis of epigenetics to therapeutic interventions for epigenetic-based disorders. A timely and comprehensive collection of fully up-to-date reviews on epigenetics, organized into one volume and written by leading figures in the field Covers the latest advances in many different areas of epigenetics, ranging from basic aspects to technologies to clinical medicine Written at the verbal and technical levels that can be understood by scientists as well as college students Updated to include new epigenetic discoveries, newly approved therapeutics, and clinical trials

Techniques of Medical Genetics

Techniques of Medical Genetics
A Brief Introduction to Bio-informatics

by Dr. Ruchi Ratnesh

  • Publisher : EduPedia Publications Pvt. Ltd.
  • Release : 2019-10-14
  • Pages : 215
  • ISBN : 9386954419
  • Language : En, Es, Fr & De
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The knowledge of genetics and the bioinformatics has increased rapidly over the past few decades. The application of this knowledge has become an integral part of patient care and the preventive thrust of modern medicine. The aetiology of the majority of disorders has some genetic component. The subject of genetics is gaining utmost importance in the medical science. However, most of the medical students find this subject difficult to understand and therefore, neglect it. The aim of this book is to present the text in such a way that it provides the clear and conceptual understanding of the subject. A simple and concise account of different techniques of genetics will help students understand them better. This book is not a comprehensive textbook of genetics. Instead, it takes a look at the basic concepts as well as interesting and clinically applicable aspects of genetics. This book on techniques of genetics emphasize the central principles and how they apply to practice. Photographs, illustrations, and tables containing patient/family vignettes demonstrate clinical relevance and enhance visual impact of the material for easier and more effective learning and retention. Includes access to the complete text and images online at student. The latest knowledge and research on gene identification, cancer genetics, gene testing and gene therapy, common disorders, ethical and social issues, and much more so you can keep up with current developments in genetics. Bioinformatics, NGS Data analysis, Barcoding and Multiplexing, Whole genome sequence analysis, Gene bank, Genomic browers and Genomic batabases are some of the interesting topics that has been provided for the students. A knowledge of molecular genetics is essential to understand the latest developments in medicine. An attempt has been made to outline the fundamentals of molecular genetics so that the reader gets familiar with the terminologies and techniques used in this field. The students from various nonmedical background will also find this book useful in familiarizing them with the clinically applied aspects of genetics. To make it easy, text is supported with the flowchart.

Principles of Clinical Genetics

Principles of Clinical Genetics
A Book

by Yogesh Ashok Sontakke

  • Publisher : JP Medical Ltd
  • Release : 2017-11-30
  • Pages : 136
  • ISBN : 9352701887
  • Language : En, Es, Fr & De
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This book is a practical guide to the field of genetics for undergraduate medical students. Beginning with a general overview, the following sections guide students through topics such as chromosomes, DNA structure, inheritance patterns, and metabolism, to cancer genetics, gene therapy and stem cell therapy. The text is enhanced by flow charts and illustrations and most sections feature questions to assist understanding and revision. The book concludes with ten annexures covering exam-related topics such as DNA fingerprinting, twins, immunogenetics, cloning, and more. A free poster summarising key facts of clinical genetics is provided with the book. Key points Practical guide to genetics for undergraduate medical students Each chapter features questions to assist revision Ten annexures cover exam-related topics Includes free poster summarising key facts of clinical genetics

Modern Medical Genetics and Genomics

Modern Medical Genetics and Genomics
A Book

by Israel Gomy

  • Publisher : BoD – Books on Demand
  • Release : 2019-12-18
  • Pages : 104
  • ISBN : 183968142X
  • Language : En, Es, Fr & De
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The field of medical genetics and genomics has been constantly revolutionized by new breakthroughs, which bring more knowledge into the etiology and help improve the health care of individuals with either rare or common diseases. Nevertheless, as technologies evolve, novel challenges emerge, both technically and ethically, so they must be prudentially addressed. Among the myriad applications of genomics in medicine, this book depicts a glimpse of the advances achieved that have been leading us to the personalized/precision medicine era.

Life Histories of Genetic Disease

Life Histories of Genetic Disease
Patterns and Prevention in Postwar Medical Genetics

by Andrew J. Hogan

  • Publisher : JHU Press
  • Release : 2016-11
  • Pages : 259
  • ISBN : 1421420740
  • Language : En, Es, Fr & De
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Medical geneticists began mapping the chromosomal infrastructure piece by piece in the 1970s by focusing on what was known about individual genetic disorders. Five decades later, their infrastructure had become an edifice for prevention, allowing today’s expecting parents to choose to test prenatally for hundreds of disease-specific mutations using powerful genetic testing platforms. In Life Histories of Genetic Disease, Andrew J. Hogan explores how various diseases were “made genetic” after 1960, with the long-term aim of treating and curing them using gene therapy. In the process, he explains, these disorders were located in the human genome and became targets for prenatal prevention, while the ongoing promise of gene therapy remained on the distant horizon. In narrating the history of research that contributed to diagnostic genetic medicine, Hogan describes the expanding scope of prenatal diagnosis and prevention. He draws on case studies of Prader-Willi, fragile X, DiGeorge, and velo-cardio-facial syndromes to illustrate that almost all testing in medical genetics is inseparable from the larger—and increasingly “big data”–oriented—aims of biomedical research. Hogan also reveals how contemporary genetic testing infrastructure reflects an intense collaboration among cytogeneticists, molecular biologists, and doctors specializing in human malformation. Hogan critiques the modern ideology of genetic prevention, which suggests that all pregnancies are at risk for genetic disease and should be subject to extensive genomic screening. He examines the dilemmas and ethics of the use of prenatal diagnostic information in an era when medical geneticists and biotechnology companies have begun offering whole genome prenatal screening—essentially searching for any disease-causing mutation. Hogan’s focus and analysis is animated by ongoing scientific and scholarly debates about the extent to which the preventive focus in contemporary medical genetics resembles the aims of earlier eugenicists. Written for historians, sociologists, and anthropologists of science and medicine, as well as bioethics scholars, physicians, geneticists, and families affected by genetic conditions, Life Histories of Genetic Disease is a profound exploration of the scientific culture surrounding malformation and mutation.

Medical Genetics

Medical Genetics
Its Application to Speech, Hearing, and Craniofacial Disorders

by Nathaniel Robin

  • Publisher : Plural Pub Incorporated
  • Release : 2008
  • Pages : 182
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Nowhere in the literature is there a book that reviews the rapidly developing field medical genetics from theories to its implications for clinical practice. Nathaniel Robin's book fills that void. His new book covers the whole field of medical genetics from a general overview of the profession to details of effective treatment of patients with common and esoteric genetic disorders including birth defects, hearing loss, oro-facial clefting, craiosynostosis, and much more. Crucially, as issues surrounding breakthroughs in understanding and development of new technologies in genetics have risen to the fore of the cultural consciousness, he gives coverage to the many ethical questions raised.

Medical Genetics in the Clinical Practice of ORL

Medical Genetics in the Clinical Practice of ORL
A Book

by Raye L. Alford,V. Reid Sutton

  • Publisher : Karger Medical and Scientific Publishers
  • Release : 2011
  • Pages : 158
  • ISBN : 3805596685
  • Language : En, Es, Fr & De
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Diagnosis and management of adult and pediatric genetic disorders Experts in otorhinolaryngology as well as medical genetics have contributed their reviews to this comprehensive compilation. Introductory chapters deal with basic genetics followed by chapters devoted to specific disorders. The gamut of otorhinolaryngological diseases from both adult and pediatric practice is covered. Included are common disorders such as hearing loss, cleft lip and palate, and thyroid cancers as well as further chapters on rare disorders such as Usher syndrome, neurofibromatosis type 2 and paraganglioma. Also, emerging fields of genetic investigation including otitis media, chronic rhinosinusitis and gene therapy are discussed. The contributions focus on diagnosis and management, as well as practical issues like how to order genetic testing or refer to a medical geneticist or genetic counselor. This publication will serve as an educational and reference text for both adult and pediatric otorhinolaryngologists, as well as medical geneticists and genetic counselors. It will provide readers with an understanding of the current state of genetic disorders seen in ORL practice, allow for accurate diagnosis, and improve patient management.

Medical Genetics

Medical Genetics
Past, Present, Future : Proceedings of a Symposium Entitled Medical Genetics, Past, Present, Future

by Kåre Berg

  • Publisher : Unknown Publisher
  • Release : 1985
  • Pages : 539
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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American Journal of Medical Genetics

American Journal of Medical Genetics
A Book

by Anonim

  • Publisher : Unknown Publisher
  • Release : 1987
  • Pages : 129
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Emery and Rimoin's Principles and Practice of Medical Genetics

Emery and Rimoin's Principles and Practice of Medical Genetics
A Book

by Alan E. H. Emery,David L. Rimoin

  • Publisher : Unknown Publisher
  • Release : 2002
  • Pages : 4388
  • ISBN : 9780443064340
  • Language : En, Es, Fr & De
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