Medical Genetics At A Glance PDF Download

Are you looking for read ebook online? Search for your book and save it on your Kindle device, PC, phones or tablets. Download Medical Genetics At A Glance PDF full book. Access full book title Medical Genetics At A Glance.

Medical Genetics at a Glance

Medical Genetics at a Glance
Author: Dorian J. Pritchard
Publisher: John Wiley & Sons
Total Pages: 243
Release: 2013-07-08
Genre: Medical
ISBN: 1118689011

Download Medical Genetics at a Glance Book in PDF, ePub and Kindle

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.


Medical Genetics at a Glance

Medical Genetics at a Glance
Author: Dorian J. Pritchard
Publisher:
Total Pages: 167
Release: 2008
Genre: Developmental biology
ISBN:

Download Medical Genetics at a Glance Book in PDF, ePub and Kindle


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

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics
Author: Reed E. Pyeritz
Publisher: Academic Press
Total Pages: 320
Release: 2021-11-02
Genre: Science
ISBN: 0128152370

Download Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics Book in PDF, ePub and Kindle

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


Clinical Genetics and Genomics at a Glance

Clinical Genetics and Genomics at a Glance
Author: Neeta Lakhani
Publisher: John Wiley & Sons
Total Pages: 277
Release: 2023-08-28
Genre: Medical
ISBN: 1119240956

Download Clinical Genetics and Genomics at a Glance Book in PDF, ePub and Kindle

Clinical Genetics and Genomics at a Glance The market-leading at a Glance series is popular among healthcare students and newly qualified practitioners, for its concise and simple approach and excellent illustrations. Each bite-sized chapter is covered in a double-page spread with clear, easy-to-follow diagrams, supported by succinct explanatory text. Covering a wide range of topics, books in the at a Glance series are ideal as introductory texts for teaching, learning and revision, and are useful throughout university and beyond. Everything you need to know about Clinical Genetics and Genomics … at a Glance! Comprehensive and accessible overview of genetics in clinical practice with a unique systems-based approach Clinical Genetics and Genomics at a Glance combines the clinical and scientific facets of a complex subject in a way that is both accessible and succinct to facilitate the diagnosis, treatment, and management of common genetic conditions. Using the popular “at a Glance” format, this book enables the reader to gain a solid understanding of the practical applications of clinical genetics in different systems. Covering a wide range of topics, this book is perfect for an introduction on the subject texts or for revision purposes and are useful throughout medical school and beyond. Clinical Genetics and Genomics at a Glance uses a systemic approach following all the systems in the body: General topics such as inheritance, cytogenetic and molecular genetic techniques, how to read a genetic test report, and genetic counselling Chapters on key conditions with a genetic basis, organised by body systems, for example: Cardiology topics such as congenital heart disease, ischaemic heart disease, cardiomyopathies, arrhythmias, and sudden cardiac death Dermatology topics such as tuberous sclerosis, Gorlin syndrome, Darier disease, lamellar ichthyosis, mal de meleda, cutaneous porphyria, and epidermolysis bullosa Endocrinology topics such as adrenal gland conditions, androgen insensitivity syndrome, ambiguous sex syndromes, anorchism, Klinefelter syndrome, Turner syndrome, and diabetes mellitus Clinical Genetics and Genomics at a Glance is a helpful learning aid that can be used at various stages of medical training to gain an understanding of the aspects of clinical genetics and the fundamentals behind the specialty. The text also functions as a useful on-ward reference tool for practitioners of all experience levels.


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

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics
Author: Reed E. Pyeritz
Publisher: Academic Press
Total Pages: 384
Release: 2022-08-26
Genre: Medical
ISBN: 0128126825

Download Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics Book in PDF, ePub and Kindle

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


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

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics
Author: Reed E. Pyeritz
Publisher: Elsevier
Total Pages: 0
Release: 2023-12-01
Genre: Medical
ISBN: 0128152354

Download Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics Book in PDF, ePub and Kindle

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Developmental Disorders, Seventh Edition is distinguished as the ultimate resource for clinicians integrating genetics into medical practice. 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. 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 in medicine more broadly. Users will find comprehensive sections on medical genetics applied to a range of developmental disorders and an emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Updated chapters on human developmental genetics as well as the genetics of sexual development, clefting, dental, and craniofacial syndromes, craniosynostosis, rasopathies, sex-chromosome abnormalities, and autosomal deletions, among other disorders are included. Revised and up-to-date, this volume thoroughly addresses medical genetics and genomics as applied to developmental 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 an in-depth examination of the genetic basis of a range of developmental disorders, including clefting, dental, and craniofacial syndromes, craniosynostosis, rasopathies, sex-chromosome abnormalities, and autosomal deletions, among others Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics Presents a robust companion website that offers further teaching tools and links to outside resources and articles


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

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics
Author: Reed E. Pyeritz
Publisher: Academic Press
Total Pages: 0
Release: 2023-12-01
Genre: Medical
ISBN: 9780128152348

Download Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics Book in PDF, ePub and Kindle

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 in medicine more broadly. In Developmental Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of developmental 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 healthcare professionals will find new and fully revised chapters on human developmental genetics as well as the genetics of sexual development; clefting, dental, and craniofacial syndromes; craniosynostosis; rasopathies; sex-chromosome abnormalities; and autosomal deletions among other disorders. 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.


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

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics
Author: Reed E Pyeritz
Publisher: Academic Press
Total Pages: 500
Release: 2019-10-15
Genre:
ISBN: 9780128125328

Download Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics Book in PDF, ePub and Kindle

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. In this Volume, Cardiovascular, Respiratory, and Gastrointestinal Disorders, leading international contributors examine the genetics of cardiovascular, respiratory, and gastrointestinal disorders in-depth, with emphasis on understanding the genetic determinants of these disorders and identifying pathways for diagnosis, prevention, and disease management 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 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. 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. Offers pathways for diagnosis, prevention, and disease management Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics


Emery's Elements of Medical Genetics E-Book

Emery's Elements of Medical Genetics E-Book
Author: Peter D Turnpenny
Publisher: Elsevier Health Sciences
Total Pages: 486
Release: 2016-11-30
Genre: Medical
ISBN: 0702066893

Download Emery's Elements of Medical Genetics E-Book Book in PDF, ePub and Kindle

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.


Medical Biochemistry at a Glance

Medical Biochemistry at a Glance
Author: J. G. Salway
Publisher: John Wiley & Sons
Total Pages: 180
Release: 2012-02-13
Genre: Medical
ISBN: 0470654511

Download Medical Biochemistry at a Glance Book in PDF, ePub and Kindle

Offering a concise, illustrated summary of biochemistry and its relevance to clinical medicine, Medical Biochemistry at a Glance is intended for students of medicine and the biomedical sciences such as nutrition, biochemistry, sports science, medical laboratory sciences, physiotherapy, pharmacy, physiology, pharmacology, genetics and veterinary science. It also provides a succinct review and reference for medical practitioners and biomedical scientists who need to quickly refresh their knowledge of medical biochemistry. The book is designed as a revision guide for students preparing for examinations and contains topics that have been identified as 'high-yield' facts for the United States Medical Licensing Examination (USMLE), Step 1. This third edition: Has been thoroughly revised and updated and is now in full colour throughout Is written by the author of the hugely successful Metabolism at a Glance (ISBN 9781405107167) Features updated and improved clinical correlates Expands its coverage with a new section on Molecular Biology Includes a brand new companion website of self-assessment questions and answers at www.ataglanceseries.com/medicalbiochemistry