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, genetic counseling, and management and treatment strategies to complete its coverage of this growing field 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.
In Metabolic Disorders, leading physicians and researchersthoroughly examine medical genetics as applied to a range of metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others.
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.
Автор: Lynn B. Jorde, John C. Carey , Michael J. Bamshad Название: Medical Genetics, 6 ed. ISBN: 0323597378 ISBN-13(EAN): 9780323597371 Издательство: Elsevier Science Рейтинг: Цена: 58380.00 T Наличие на складе: Есть у поставщика Поставка под заказ. Описание:
Up to date and extensively revised to reflect recent advances in the genetics of common diseases, as well as current progress in gene therapy, Medical Genetics, 6th Edition, delivers easy-to-read, highly visual coverage of this rapidly changing field. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more - all designed to enhance effective learning and retention of complex material.
Discusses current topics
including polygenic risk scores and their potential applications for diabetes, cancer, and heart disease, and the latest sequencing technologies and their clinical application in genetic testing and diagnosis.
Offers a completely updated discussion of genetic testing modalities and applications.
Includes convenient concept summaries, more than 230 photographs, illustrations, and tables, as well as patient/family vignettes that present valuable perspectives on disease and treatment.
Features Clinical Commentary boxes that demonstrate how the hard science of genetics has real applications to everyday patient problems, preparing you for problem-based integrated courses.
Illustrates key concepts with disease examples to demonstrate relevance to medicine.
Provides study questions for self-assessment, as well as 200 additional USMLE-style questions online.
Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
Автор: Eberhard Passarge Название: Color Atlas of Genetics, 5 еd. ISBN: 3132414409 ISBN-13(EAN): 9783132414402 Издательство: Thieme Verlagsgruppe Рейтинг: Цена: 71560.00 T Наличие на складе: Нет в наличии. Описание:
Ever since the International Human Genome Project achieved its extraordinary goal of sequencing and mapping the entire human genome, represented by approximately 3 billion base pairs, with its far-reaching implications for understanding the causes of human genetic disorders and their diagnosis, progress in the field has not slowed down.
In the fifth edition of the bestselling Color Atlas of Genetics, readers will be rewarded with a complete and current overview of the field, with an emphasis on the interface between fundamental principles and practical applications in medicine and the role of signaling pathways in causing diseases.
Using the acclaimed Flexibook format designed for easy visual learning and retention, the atlas is invaluable for students, clinicians, and scientists interested in staying up to date in this fast-evolving area.
New fully illustrated topics in the revised fifth edition of the atlas include:
An overview of disorders resulting from structural changes of the genome (genomic disorders)
Abnormal imprinting patterns
Examples of impaired signal pathways (laminopathies, fibrillinopathies, cohesinopathies, and others)
The CRISPR-Cas system
Genetic features of the aging processes
Disorders due to rearrangements of chromatin in the cell nucleus, and others
With almost 200 stunning color plates explained by concise texts on the opposite pages, including tables presenting useful data, a glossary of terms, key references, and online resources, the atlas presents clear and accessible concepts. It is an excellent refresher for investigators in any field of medicine or biology.
Автор: Peter D Turnpenny, Sian Ellard, Ruth Cleaver Название: Emery`s Elements of Medical Genetics and Genomics, 16e ISBN: 0702079669 ISBN-13(EAN): 9780702079665 Издательство: Elsevier Science Рейтинг: Цена: 48270.00 T Наличие на складе: Есть у поставщика Поставка под заказ. Описание: Long recognized as a leading textbook in this fast-moving field, Emery's Elements of Medical Genetics and Genomics offers current, complete information with a strong basis in practical clinical genetics and genomics for medical school and beyond. The 16th Edition of this award-winning text has been thoroughly updated throughout and includes case-based and multiple-choice questions, end-of-chapter summaries, an extensive glossary, and convenient online access, making it an ideal choice for all medical undergraduates as well as postgraduates seeking to improve their understanding and knowledge.
Includes new case-based studies with questions and answers throughout, in addition to multiple-choice self-assessment questions for study and review.
Covers key topics such as pharmacogenetics, personalized medicine, prenatal testing, reproductive genetics, and ethical and legal issues in medical genetics.
Divides the text into three easy-to-use sections: The Scientific Basis of Human Genetics, Genetics in Medicine and Genomic Medicine, and Clinical Genetics, Counseling and Ethics
Features full-color illustrations and other images that help readers visualize the appearance of genetic disorders and assist with the understanding of complex genetic structures.
Contains learning features such as summary boxes, an extensive glossary of terms, online hyperlinks to important genetics websites and clinical databases, and more.
Presents the extensive knowledge and experience of distinguished editors Peter D. Turnpenny and Sian Ellard, as well as new editor Ruth Cleaver.
Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
Автор: Nalini Chandar, Susan M. Viselli Название: Lippincott Illustrated Reviews: Cell and Molecular Biology, 3 IE ISBN: 197518095X ISBN-13(EAN): 9781975180959 Издательство: Lippincott Williams & Wilkins Рейтинг: Цена: 49130.00 T Наличие на складе: Есть Описание: Up to date, easy to use, and rich with vibrant illustrations, Lippincott® Illustrated Reviews: Cell and Molecular Biology, 3rd Edition, provides a highly visual presentation of essential cell and molecular biology with a focus on topics related to human health and disease. This engaging approach incorporates all of the most popular features of the bestselling Lippincott® Illustrated Reviews series, including abundant full-color illustrations, chapter summaries, and review questions that link basic science to real-life clinical situations.
The updated, versatile 3rd Edition can be used for a standalone cell biology course in medical, health professions, or other graduate and upper-level undergraduate programs; as a review for course and board exams; or in conjunction with other Lippincott® Illustrated Reviews for a seamless integrated course.
UPDATED! Revised content throughout—including updated unit overviews and chapter summaries—helps students master the latest cell and molecular biology knowledge.
UPDATED! Clinical Application boxes reinforce key concepts and enrich students’ understanding and clinical application capability.
More than 250 full-color, annotated illustrations clarify complex processes and simplify study.
Online animations and interactive review questions strengthen comprehension and retention.
Автор: Anthony J.F. Griffiths, John Doebley, Catherine Pe Название: An Introduction to Genetic Analysis ISBN: 1319114776 ISBN-13(EAN): 9781319114770 Издательство: Macmillan Learning Рейтинг: Цена: 101630.00 T Наличие на складе: Нет в наличии. Описание: The evolution of a classicThe new 12th edition of Introduction to Genetic Analysis takes this cornerstone textbook to the next level.
Автор: Naumova Anna K & Taketo-Hosotani Teruko Название: Epigenetics In Human Reproduction And Development ISBN: 9813144262 ISBN-13(EAN): 9789813144262 Издательство: World Scientific Publishing Цена: 121440.00 T Наличие на складе: Есть у поставщика Поставка под заказ. Описание:
Epigenetics is defined as heritable changes that do not affect the DNA sequence but influence gene expression. Epigenetic changes occur at the levels of DNA, histone, protein, and chromatin structures. Proper epigenetic modifications are essential for cell differentiation and function during development, while some epigenetic modifications are passed on from parents to offspring through gametes. Therefore, alterations of epigenetic states would have serious consequences for human development and health. This realization and the advent of new technologies have encouraged the advance of epigenetic studies in recent years. Nonetheless, many aspects of epigenetics, such as regulatory mechanisms and evolutional advantages, remain to be better understood.
Written by 26 scientists at the forefront of epigenetics research, this book discusses the different facets of epigenetics: from gametogenesis to child development, as well as from mechanistic studies in animal models to reviews of human clinical data.
Автор: Tobias, Edward S. Connor, Michael Smith, Malcolm Ferguson Название: Essential Medical Genetics 6 ed. ISBN: 1405169745 ISBN-13(EAN): 9781405169745 Издательство: Wiley Рейтинг: Цена: 47470.00 T Наличие на складе: Есть у поставщика Поставка под заказ. Описание: Adopted at Cambridge University Essential Medical Genetics provides students, clinicians, counsellors and scientists with the up-to-date information they need regarding the basic principles underlying medical genetics.
Автор: Gardner, R.j. Mckinlay (adjunct Professor, Clinica Название: Gardner and Sutherland`s chromosome abnormalities and genetic counseling ISBN: 0199329001 ISBN-13(EAN): 9780199329007 Издательство: Oxford Academ Рейтинг: Цена: 124080.00 T Наличие на складе: Поставка под заказ. Описание: Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.
Автор: Emery Alan Название: Duchenne Muscular Dystrophy ISBN: 0199681481 ISBN-13(EAN): 9780199681488 Издательство: Oxford Academ Рейтинг: Цена: 110880.00 T Наличие на складе: Есть у поставщика Поставка под заказ. Описание: Fully revised and updated the new edition of Duchenne Muscular Dystrophy discusses the recent advances in the field of molecular biology for prenatal diagnosis and genetic counselling to the recent pioneering work with anti-sense oligonucleotides, and the possibility of effective RNA therapy.
Название: Emery and rimoin`s principles and practice of medical genetics and genomics ISBN: 0128125322 ISBN-13(EAN): 9780128125328 Издательство: Elsevier Science Рейтинг: Цена: 107740.00 T Наличие на складе: Поставка под заказ. Описание: Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, 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. This comprehensive, yet practical, resource emphasizes theory and research fundamentals relating to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine. Updated sections in this release cover the genetics of cardiovascular, respiratory and gastrointestinal disorders, with an emphasis on genetic determinants and new pathways for diagnosis, prevention and disease management.
In addition, genetic researchers, students and health professionals will find new and fully revised chapters on the molecular genetics of congenital heart defects, inherited cardiomyopathies, hypertension, cystic fibrosis, asthma, hereditary pulmonary emphysema, inflammatory bowel disease, and bile pigment metabolism disorders among other conditions.
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, genetic counseling, and management and treatment strategies to complete its coverage of this growing field 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.
In Metabolic Disorders, leading physicians and researchersthoroughly examine medical genetics as applied to a range of metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others.
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.
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, genetic counseling, and management and treatment strategies to complete its coverage of this growing field 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.
In this volume, leading physicians and researchersthoroughly examine medical genetics and genomics as applied to hematologic, immunologic, and endocrinologic disorders, with emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods that make use of current genomic technologies and translational studies. 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, 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.
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