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Emery And Rimoin`S Principles And Practice Of Medical Genetics And Genomics, Pyeritz, Reed E.


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Автор: Pyeritz, Reed E.
Название:  Emery And Rimoin`S Principles And Practice Of Medical Genetics And Genomics
ISBN: 9780128125342
Издательство: Elsevier Science
Классификация:

ISBN-10: 0128125349
Обложка/Формат: Hardback
Страницы: 448
Вес: 0.92 кг.
Дата издания: 01.11.2020
Язык: English
Издание: 7 ed
Размер: 200 x 242 x 29
Читательская аудитория: Professional & vocational
Подзаголовок: Hematologic, renal, and immunologic disorders
Ссылка на Издательство: Link
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Поставляется из: Европейский союз
Описание:

For decades, Emery and Rimoins 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 worlds 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 researchers thoroughly 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 Rimoins 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.




Medical Genetics, 6 ed.

Автор: Lynn B. Jorde, John C. Carey , Michael J. Bamshad
Название: Medical Genetics, 6 ed.
ISBN: 0323597378 ISBN-13(EAN): 9780323597371
Издательство: Elsevier Science
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Цена: 8757.00 р.
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.
Color Atlas of Genetics, 5 еd.

Автор: Eberhard Passarge
Название: Color Atlas of Genetics, 5 еd.
ISBN: 3132414409 ISBN-13(EAN): 9783132414402
Издательство: Thieme Verlagsgruppe
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Цена: 10734.00 р.
Наличие на складе: Поставка под заказ.

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.

Emery`s Elements of Medical Genetics and Genomics, 16e

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
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Цена: 7241.00 р.
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.
An Introduction to Genetic Analysis

Автор: Anthony J.F. Griffiths, John Doebley, Catherine Pe
Название: An Introduction to Genetic Analysis
ISBN: 1319114776 ISBN-13(EAN): 9781319114770
Издательство: Macmillan Learning
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Цена: 15244.00 р.
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.

Genomes 4

Автор: T. Brown
Название: Genomes 4
ISBN: 0815345089 ISBN-13(EAN): 9780815345084
Издательство: Taylor&Francis
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Цена: 9645.00 р.
Наличие на складе: Поставка под заказ.

Описание:

Genomes 4 has been completely revised and updated. It is a thoroughly modern textbook about genomes and how they are investigated. As with Genomes 3, techniques come first, then genome anatomies, followed by genome function, and finally genome evolution. The genomes of all types of organism are covered: viruses, bacteria, fungi, plants, and animals including humans and other hominids.

Genome sequencing and assembly methods have been thoroughly revised including a survey of four genome projects: human, Neanderthal, giant panda, and barley. Coverage of genome annotation emphasizes genome-wide RNA mapping, with CRISPR-Cas 9 and GWAS methods of determining gene function covered. The knowledge gained from these techniques forms the basis of the three chapters that describe the three main types of genomes: eukaryotic, prokaryotic (including eukaryotic organelles), and viral (including mobile genetic elements). Coverage of genome expression and replication is truly genomic, concentrating on the genome-wide implications of DNA packaging, epigenome modifications, DNA-binding proteins, non-coding RNAs, regulatory genome sequences, and protein-protein interactions. Also included are applications of transcriptome analysis, metabolomics, and systems biology. The final chapter is on genome evolution, focusing on the evolution of the epigenome, using genomics to study human evolution, and using population genomics to advance plant breeding. Established methods of molecular biology are included if they are still relevant today and there is always an explanation as to why the method is still important.

Each chapter has a set of short-answer questions, in-depth problems, and annotated further reading. There is also an extensive glossary. Genomes 4 is the ideal text for upper level courses focused on genomes and genomics.

Epigenetics In Human Reproduction And Development

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: 18216.00 р.
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.

Emery And Rimoin`S Principles And Practice Of Medical Genetics And Genomics

Автор: Pyeritz, Reed E.
Название: Emery And Rimoin`S Principles And Practice Of Medical Genetics And Genomics
ISBN: 0128125357 ISBN-13(EAN): 9780128125359
Издательство: Elsevier Science
Рейтинг:
Цена: 19875.00 р.
Наличие на складе: Поставка под заказ.

Описание:

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 researchers thoroughly 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.

Applying Pharmacogenomics in Therapeutics

Название: Applying Pharmacogenomics in Therapeutics
ISBN: 1466582677 ISBN-13(EAN): 9781466582675
Издательство: Taylor&Francis
Рейтинг:
Цена: 27562.00 р.
Наличие на складе: Есть у поставщика Поставка под заказ.

Описание:

Recent advances in high-throughput gene sequencing and other omics biotechnologies have served as a springboard for the field of pharmacogenomics. Pharmacogenomics is now generally accepted as the major determinant of variable drug safety, efficacy, and cost-effectiveness. Therefore, widespread use of pharmacogenomics for patient care has become a critical requirement. There is an unprecedented urgency for aspiring and practicing clinicians to become trained on how to interpret data from pharmacogenomic testing in preparation for the future of healthcare--i.e., personalized medicine.

Applying Pharmacogenomics in Therapeutics provides timely coverage of the principles, practice, and potential of pharmacogenomics and personalized medicine. Comprised of chapters contributed by well-established pharmacologists and scientists from US and Chinese academia and industry, this authoritative text:

  • Demonstrates how to apply the principles of pharmacogenomics and its biotechnologies in patient care
  • Depicts the use of genetic biomarkers in drug discovery and development, laboratory medicine, and clinical services
  • Describes the practice of pharmacogenomics in the treatment of cancers, cardiovascular diseases, neurologic and psychiatric disorders, and pulmonary diseases
  • Discusses the merging of pharmacogenomics and alternative medicine, as well as the integration of pharmacogenomics into pharmacoeconomics

Each chapter begins with the key concepts, followed by in-depth explorations of case reports or critical evaluations of genetic variants/biomarkers, and concludes with questions for self-examination.

Emery And Rimoin`S Essential Medical Genetics

Автор: Rimoin, David L.
Название: Emery And Rimoin`S Essential Medical Genetics
ISBN: 0124072402 ISBN-13(EAN): 9780124072404
Издательство: Elsevier Science
Рейтинг:
Цена: 29139.00 р.
Наличие на складе: Поставка под заказ.

Описание: Suitable for practicing clinicians to learn how the study of genetics can be integrated into practice, this book helps to bridge the gap between high-level molecular genetics and individual application. It follows the multi-volume set in scientific fundamentals, spectrum discussion of inherited disorders, and actionable therapies.

Emery and rimoin`s principles and practice of medical genetics and genomics

Название: Emery and rimoin`s principles and practice of medical genetics and genomics
ISBN: 0128125322 ISBN-13(EAN): 9780128125328
Издательство: Elsevier Science
Рейтинг:
Цена: 16161.00 р.
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.

Emery and rimoin`s principles and practice of medical genetics and genomics

Автор: Pyeritz et al
Название: Emery and rimoin`s principles and practice of medical genetics and genomics
ISBN: 0128152362 ISBN-13(EAN): 9780128152362
Издательство: Elsevier Science
Рейтинг:
Цена: 16505.00 р.
Наличие на складе: Поставка под заказ.

Описание: Follow one girl as she builds a rocket and plans to take her friends on an amazing trip to the Sun and Moon. But will the task prove more difficult than she first thought? Imaginatively illustrated by T.S Spookytooth, this clever and inventive poem was written by eleven-year-old Collins Big Cat 2011 Writing Competition winner Nicole Sharrocks.

Cancer genomics for the clinician

Автор: Ramaswamy Govindan, Siddhartha Devarakonda
Название: Cancer genomics for the clinician
ISBN: 0826168671 ISBN-13(EAN): 9780826168672
Издательство: Mare Nostrum (Eurospan)
Рейтинг:
Цена: 7484.00 р.
Наличие на складе: Есть у поставщика Поставка под заказ.

Описание: A practical guide to cancer genomics and its application to cancer diagnosis and care. Each chapter provides explanations of concepts, terminology, and methods. Also included are tips for interpreting and analysing molecular data, and discussion of molecular predictors for targeted therapies covering haematologic malignancies and solid tumours.


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