Medical Genetics at a Glance

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Author :
Publisher : John Wiley & Sons
ISBN 13 : 1118689011
Total Pages : 243 pages
Book Rating : 4.1/5 (186 download)

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Book Synopsis Medical Genetics at a Glance by : Dorian J. Pritchard

Download or read book Medical Genetics at a Glance written by Dorian J. Pritchard and published by John Wiley & Sons. This book was released on 2013-07-08 with total page 243 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

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Publisher :
ISBN 13 :
Total Pages : 167 pages
Book Rating : 4.:/5 (124 download)

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Book Synopsis Medical Genetics at a Glance by : Dorian J. Pritchard

Download or read book Medical Genetics at a Glance written by Dorian J. Pritchard and published by . This book was released on 2008 with total page 167 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Medical Biochemistry at a Glance

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Publisher : John Wiley & Sons
ISBN 13 : 0470654511
Total Pages : 180 pages
Book Rating : 4.4/5 (76 download)

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Book Synopsis Medical Biochemistry at a Glance by : J. G. Salway

Download or read book Medical Biochemistry at a Glance written by J. G. Salway and published by John Wiley & Sons. This book was released on 2012-02-13 with total page 180 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Human Genetics

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Publisher : Lippincott Williams & Wilkins
ISBN 13 : 1608316718
Total Pages : 410 pages
Book Rating : 4.6/5 (83 download)

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Book Synopsis Human Genetics by : Christian Patrick Schaaf

Download or read book Human Genetics written by Christian Patrick Schaaf and published by Lippincott Williams & Wilkins. This book was released on 2012 with total page 410 pages. Available in PDF, EPUB and Kindle. Book excerpt: Core genetics text for medical students in their 1st or 2nd year. Unique in its organ system approach, this textbook teaches concepts in medical genetics by exploring disease entities within the context of the organ system in which they most frequently present. TOP 30 genetic conditions covered in a tear-out apple flap or C2. Section on information from a patient and familys point of view helps teach students about key obstacles for patients suffering from severe genetic conditions. Adapted from a successful German text published by Springer.

Human Genetics and Genomics

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Author :
Publisher : John Wiley & Sons
ISBN 13 : 1118537661
Total Pages : 280 pages
Book Rating : 4.1/5 (185 download)

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Book Synopsis Human Genetics and Genomics by : Bruce R. Korf

Download or read book Human Genetics and Genomics written by Bruce R. Korf and published by John Wiley & Sons. This book was released on 2012-11-19 with total page 280 pages. Available in PDF, EPUB and Kindle. Book excerpt: This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice ‘Hot topics’ boxes that focus on the latest developments in testing, assessment and treatment ‘Ethical issues’ boxes to prompt further thought and discussion on the implications of genetic developments ‘Sources of information’ boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.

Emery's Elements of Medical Genetics

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Author :
Publisher :
ISBN 13 :
Total Pages : 388 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Emery's Elements of Medical Genetics by : Robert F. Mueller

Download or read book Emery's Elements of Medical Genetics written by Robert F. Mueller and published by . This book was released on 2001 with total page 388 pages. Available in PDF, EPUB and Kindle. Book excerpt: Today's medical student needs to understand the principles of genetics rather than accumulate detailed facts. This text explains the essential themes of medical genetics whilst remaining in control of the developments in this subject.

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

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Author :
Publisher : Academic Press
ISBN 13 : 0128152370
Total Pages : 320 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics by : Reed E. Pyeritz

Download or read book Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Academic Press. This book was released on 2021-11-02 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

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Publisher : John Wiley & Sons
ISBN 13 : 1119240956
Total Pages : 277 pages
Book Rating : 4.1/5 (192 download)

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Book Synopsis Clinical Genetics and Genomics at a Glance by : Neeta Lakhani

Download or read book Clinical Genetics and Genomics at a Glance written by Neeta Lakhani and published by John Wiley & Sons. This book was released on 2023-08-28 with total page 277 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Genetic Skin Disorders

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Publisher : Oxford University Press
ISBN 13 : 0190276479
Total Pages : 489 pages
Book Rating : 4.1/5 (92 download)

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Book Synopsis Genetic Skin Disorders by : Virginia P. Sybert

Download or read book Genetic Skin Disorders written by Virginia P. Sybert and published by Oxford University Press. This book was released on 2017 with total page 489 pages. Available in PDF, EPUB and Kindle. Book excerpt: This fully revised and updated edition of GENETIC SKIN DISORDERS reflects the most current understanding of the diagnosis, treatment, genetic basis, and differential diagnoses of inherited skin disorders. Organized with the needs of busy clinicians in mind, it offers detailed clinical guidance on the signs, symptoms, mode of inheritance, recurrence risk, and diagnosis of over 300 skin disorders, all in an accessible, at-a-glance format. Annotated bibliographies highlight the most relevant and up-to-date medical literature. Newly compiled lists of support groups, both national and international, for patients and their families supplement the ample resources for medical professionals. Informed by the author's extensive clinical experience and suffused with a distinctive, witty voice, GENETIC SKIN DISORDERS is an ideal companion in the laboratory, clinic, or consulting room. FEATURES · Includes both disease-based chapters and an appendix of skin signs that simplifies differential diagnosis for specialists and general practitioners alike · More than 800 color photographs illustrate the full spectrum of hair, skin, and nail abnormalities · Updated to reflect current classification of inherited skin disorders and the molecular underpinnings of these conditions

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

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Author :
Publisher : Academic Press
ISBN 13 : 0128126825
Total Pages : 384 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics by : Reed E. Pyeritz

Download or read book Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Academic Press. This book was released on 2022-08-26 with total page 384 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Paediatrics at a Glance

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Publisher : John Wiley & Sons
ISBN 13 : 1118947800
Total Pages : 208 pages
Book Rating : 4.1/5 (189 download)

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Book Synopsis Paediatrics at a Glance by : Lawrence Miall

Download or read book Paediatrics at a Glance written by Lawrence Miall and published by John Wiley & Sons. This book was released on 2016-04-29 with total page 208 pages. Available in PDF, EPUB and Kindle. Book excerpt: Paediatrics at a Glance provides an introduction to paediatrics and the problems encountered in child health as they present in primary, community and secondary care, from birth through to adolescence. Thoroughly updated to reflect changes in understanding of childhood illness over the last 5 years, the 4th edition of this best-selling textbook diagrammatically summarises the main differential diagnoses for each presenting symptom, while accompanying text covers important disorders and conditions as well as management information. Paediatrics at a Glance: • Is an accessible, user-friendly guide to the entire paediatric curriculum • Features expanded coverage of psychological issues and ethics in child health • Includes more on advances in genetics, screening and therapy of childhood illness • Contains new videos of procedures and concepts on the companion website • Includes a brand new chapter on Palliative Care - an emerging area in the specialty • Features full colour artwork throughout • Includes a companion website at www.ataglanceseries.com/paediatrics featuring interactive self-assessment case studies, MCQs, videos of the procedures and concepts covered in the book, and links to online resources Paediatrics at a Glance is the ideal companion for anyone about to start a paediatric attachment or module and will appeal to medical students, junior doctors and GP trainees as well as nursing students and other health professionals.

Emery and Rimoin's Principles and Practice of Medical Genetics

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Author :
Publisher :
ISBN 13 :
Total Pages : 1264 pages
Book Rating : 4.:/5 ( download)

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Book Synopsis Emery and Rimoin's Principles and Practice of Medical Genetics by : David L. Rimoin

Download or read book Emery and Rimoin's Principles and Practice of Medical Genetics written by David L. Rimoin and published by . This book was released on 2007 with total page 1264 pages. Available in PDF, EPUB and Kindle. Book excerpt: "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. With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this 6e bridges the gap between high-level molecular genetics and individual application. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders. Clinically oriented information is supported by expanded sections on basic 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. Over 250 of the world's most trusted authorities in medical genetics will contribute to the new release of the revised electronic edition of the work. Regular updates and the integration of teaching tools such as videos and graphics will distinguish this work from the competition. Links to sites such as Online Mendelian Inheritance in Man (OMIM) and similar sites that provide up-to-date information on human genes and genetic phenotypes will make this product the ultimate source for students, researchers, and practitioners alike."--Publisher's website.

Cancer Genetics and Psychotherapy

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Author :
Publisher : Springer
ISBN 13 : 3319645501
Total Pages : 1170 pages
Book Rating : 4.3/5 (196 download)

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Book Synopsis Cancer Genetics and Psychotherapy by : Parvin Mehdipour

Download or read book Cancer Genetics and Psychotherapy written by Parvin Mehdipour and published by Springer. This book was released on 2017-09-20 with total page 1170 pages. Available in PDF, EPUB and Kindle. Book excerpt: The aim of this book is to provide the readers with the most comprehensive and latest accounts of research and development in this field by emphasizing on the manner of relation between doctors and cancer patients in direction of improving the patients’ style of life. This book, partly, will deal with psychotherapy by considering cancer patients, benefits, hazards and also social impacts including life style. The social supports as the key and influential paradigms will be challenged as a comparative insight by considering the global unity in order to provide a reasonable model to improve the interaction between cancer and psychological nest. In this book, the real stories of cancer patient will be also provided. The initial insight of sections includes: 1) Brief classifications and key points of clinical and histopatological aspects of each organ. 2) Brief view of genetic alterations in each organ. 3) Therapeutic aspects. 4) Brief classifications and key points of Psychology in cancer. 5) The interactions of clinical aspects with psychological field.

Medical Sciences at a Glance

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Publisher : John Wiley & Sons
ISBN 13 : 1118360923
Total Pages : 167 pages
Book Rating : 4.1/5 (183 download)

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Book Synopsis Medical Sciences at a Glance by : Michael D. Randall

Download or read book Medical Sciences at a Glance written by Michael D. Randall and published by John Wiley & Sons. This book was released on 2014-03-17 with total page 167 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive companion for medical science study and revision Medical Sciences at a Glance consolidates the scientific knowledge a student needs to know to provide a solid framework of key facts to build on. Concise, easy to follow, written specifically for medical students, and using the unique at a Glance style to convey key concepts, Medical Sciences at a Glance also demonstrates vital links between different topics and across systems. It is the perfect resource for bridging the gap between A-Level and university, studying a new topic, revising for exams, or refreshing knowledge while on placement. Key features: Fully cross-referenced to Medicine at a Glance: together they cover the core concepts of an entire medical degree Highlights key points and their clinical relevance for quick revision and retention of what’s most important Brings together all the scientific content on a medical course in one easy-to-read, highly-illustrated title Accompanied by a companion website at ataglanceseries.com/medicalsciences featuring interactive multiple-choice questions and key points for revision Medical Sciences at a Glance provides the vital scientific grounding needed to succeed at medical school.

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

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Author :
Publisher : Elsevier
ISBN 13 : 0128152354
Total Pages : 0 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics by : Reed E. Pyeritz

Download or read book Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Elsevier. This book was released on 2023-12-01 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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's Elements of Medical Genetics E-Book

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Author :
Publisher : Elsevier Health Sciences
ISBN 13 : 0702066893
Total Pages : 486 pages
Book Rating : 4.7/5 (2 download)

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Book Synopsis Emery's Elements of Medical Genetics E-Book by : Peter D Turnpenny

Download or read book Emery's Elements of Medical Genetics E-Book written by Peter D Turnpenny and published by Elsevier Health Sciences. This book was released on 2016-11-30 with total page 486 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 Principles and Practice of Medical Genetics and Genomics

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Author :
Publisher : Academic Press
ISBN 13 : 9780128152348
Total Pages : 0 pages
Book Rating : 4.1/5 (523 download)

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Book Synopsis Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics by : Reed E. Pyeritz

Download or read book Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Academic Press. This book was released on 2023-12-01 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.