Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Foundations 7th Edition

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Foundations 7th Edition

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 detailed coverage in 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.

This volume, Foundations, summarizes basic theories, concepts, research areas, and the history of medical genetics, providing a contextual framework for integrating genetics into medical practice. In this new edition, clinically oriented information is supported by full-color images and expanded sections on the foundations of genetic analytics, next generation sequencing, and therapeutics.

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 the health professionals and researchers.

  • Introduces genetic researchers, students, and health professionals to basic theories, concepts, research areas, and the history of medical genetics, offering a contextual framework for integrating genetics into medical practice
  • Completely revised and up-to-date, this new edition highlights traditional approaches and new developments in the field of medical genetics, including cancer genetics, genomic technologies, genome and exome sequencing, prenatal diagnosis, public health genetics, genetic counseling, and single-cell analysis for diagnosis
  • Includes color images supporting identification, concept illustration, and method processing
  • Features contributions by leading international researchers and practitioners of medical genetics

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Emery and Rimoin’s Essential Medical Genetics 1st Edition

Emery and Rimoin’s Essential Medical Genetics 1st Edition

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

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Emery’s Elements of Medical Genetics: Emery’s Elements of Medical Genetics E-Book 15th Edition

Emery’s Elements of Medical Genetics: Emery’s Elements of Medical Genetics E-Book 15th Edition

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.

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Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Metabolic Disorders 7th Edition

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Metabolic Disorders 7th Edition

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.

– Wholly revised and up-to-date, this volume thoroughly addresses medical genetics and genomics as applied to metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and treatment methods
– Provides genetic researchers, students, and health professionals with up-to-date coverage on the genetic basis of a range of metabolic disorders, including 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
– Includes color images supporting identification, concept illustration, and method processing
– Features contributions by leading international researchers and practitioners of medical genetics
– A robust companion website offers lecture slides, image banks, and links to outside resources and articles to stay up-to-date on the latest developments in the field

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Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications 7th Edition

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications 7th Edition

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 detailed coverage in 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.Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects.With regular advances in genomic technologies propelling precision medicine into the clinic, the seventh edition of Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers.
– Fully revised and up-to-date, this new edition introduces genetic researchers, students, and health professionals to general principles of genetic counseling, genetic and genomic diagnostics, treatment pathways, drug discovery, and the application of genomic technologies, analytics, and therapeutics in clinical practice
– Examines key topics and developing areas within clinical genomics, including genetic evaluation of patients, clinical trials and drug discovery, genetic health records, cytogenetic analysis, diagnostic molecular genetics, small molecule genetic therapeutics, gene product replacement, clinical teratology, transplantation genetics, and ethical and legal aspects of genomic medicine
– Includes color images supporting identification, concept illustration, and method processing
– Features contributions by leading international researchers and practitioners of medical genetics

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Emery’s Elements of Medical Genetics and Genomics 16th Edition

Emery’s Elements of Medical Genetics and Genomics 16th Edition

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.

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Epigenetics in Precision Medicine (Volume 30)

Epigenetics in Precision Medicine (Volume 30)

Epigenetics in Precision Medicine (Volume 30)

In recent years, knowledge of epigenetic mechanisms underlying disease onset and progression has proven crucial for the development of novel early diagnosis and prognosis biomarkers for patient stratification and precision medicine. Epigenetics in Precision Medicine, a new volume in the Translational Epigenetics series, provides a thorough discussion and overview of current developments in clinical epigenetics with special emphasis on epigenetic biomarkers that can be used for clinical diagnosis, prognosis, patient stratification, and treatment monitoring. Disease types discussed include cancer, metabolic disorders, neurodegenerative diseases, bone disease, and immune-related disorders. The book examines the challenges of advancing epigenetics research and translating findings to the clinic and drug discovery in each of these areas, as well as current solutions; chapter authors discuss how to leverage epigenomic technologies, applications, and tools, such as next-generation sequencing, to discover new epigenetic biomarkers in disease and drug studies.

Epigenetics in Precision Medicine focuses on complex epigenetic mechanisms in several pathologies, and explores how epigenetics can power the advance of precision medicine, not only by improving in vitro diagnostic and prognostic tools, but by providing new therapeutic approaches to treat human disease.

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Emery’s Elements of Medical Genetics and Genomics 16th Edition

Emery’s Elements of Medical Genetics and Genomics 16th Edition

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.

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  • 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.

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Genetic Disorders and the Fetus 8th Edition

Genetic Disorders and the Fetus 8th Edition

Genetic Disorders and the Fetus 8th Edition

In the newly revised eighth edition of Genetic Disorders and the Fetus, authors and acclaimed medical doctors, Aubrey and Jeff Milunsky, deliver a thorough and comprehensive reference perfect for academicians, students in post-graduate specialization courses, and working medical professionals. This book incorporates the knowledge, wisdom, perspectives, and recommendations from a renowned team of contributing authors, drawing upon their extensive experience in prenatal genetic diagnosis to present the definitive reference work used routinely around the world.

In addition to fundamental information on established prenatal diagnosis and exhaustively referenced coverage of new techniques, you’ll find new chapters on preconception genetic counselling, preimplantation genetic diagnosis, advances in fetal imaging, and gene therapy. Genetic Disorders and the Fetus is authored by a global team of internationally recognized contributors, all of whom are leading voices in the field

The eighth edition also contains:

  • A thorough discussion of the public policy and ethics of embryo editing, including mitochondrial replacement treatment, and gene patents, prenatal diagnosis, and polygenic disease risk prediction 
  • An exploration of preimplantation genetic diagnosis, pharmacogenetics and prenatal diagnosis, and whole genome sequencing 
  • A treatment of genetic disorders and pharmacologic therapy, including spinal muscular atrophy and fragile X syndrome 
  • A discussion of legal issues, including the fetus as plaintiff and the increasing liability of physicians due to advances in genetics 

Perfect for obstetricians, clinical geneticists, molecular and biochemical geneticists, and pediatricians, Genetic Disorders and the Fetus will also earn a place in the libraries of neonatologists, genetics counsellors, ethicists, radiologists, and professionals working in public policy and health departments.

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Color Atlas of Genetics 5th Edition

Color Atlas of Genetics 5th Edition

Color Atlas of Genetics 5th Edition

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.

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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.

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