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Emery and Rimoin s Essential Medical Genetics

Emery and Rimoin s Essential Medical Genetics Author David L. Rimoin
ISBN-10 9780124169821
Release 2013-05-15
Pages 646
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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 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

Emery and Rimoin s Principles and Practice of Medical Genetics

Emery and Rimoin s Principles and Practice of Medical Genetics Author David L. Rimoin
ISBN-10 9780123838353
Release 2013-03-20
Pages 4700
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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 almost 5,000 pages of detailed coverage, this fully online sixth edition of the classic reference adds the latest information on prenatal diagnosis, genetic screening, genetic counseling, and treatment strategies to complete its coverage of the growing field for medical students, residents and physicians involved in the care of patients with genetic conditions. 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. With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this edition bridges the gap between high-level molecular genetics and clinical application. Features 174 review-length contributions that encompass traditional and new areas of the field - including in cancer genetics, genomic technologies, and molecular assays Provides many thousands of pertinent literature references guiding the reader in identifying related topics Fully illustrated with hundreds of color images, supporting identification, concept illustration and method processing

Elements of Medical Genetics

Elements of Medical Genetics Author Alan E. H. Emery
ISBN-10 0443045240
Release 1992-01-01
Pages 349
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Updated and revised, with new illustrations, diagrams and clinical photographs. There is also new information on molecular biology and molecular genetics and it is in a larger format and colour has been added for the first time. It is a text for students in preclinical as well as clinical years.

Essentials of Medical Genetics for Health Professionals

Essentials of Medical Genetics for Health Professionals Author Laura Gunder
ISBN-10 9780763759605
Release 2010-10-25
Pages 236
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Health Sciences & Professions

Oxford Desk Reference Clinical Genetics and Genomics

Oxford Desk Reference  Clinical Genetics and Genomics Author Helen V. Firth
ISBN-10 9780192519825
Release 2017-09-07
Pages 824
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A popular and easy-to-use guide, this book is a must-have tool for clinical consultations in genetics and genomic medicine. Ideal for quick reference during practice, it covers the process of diagnosis, investigation, management, and counselling for patients. With a strong evidence base and international guidelines, it puts reliable and trustworthy guidance at your fingertips. Designed for use as a first-line guide, the A to Z format ensures it's accessible, and the simple layout makes it easy to assimilate information. Highly illustrated, the book also contains up-to-date glossaries of terms used in genetics and dysmorphology providing quick reference for key concepts. The second edition is an eagerly anticipated update of the gold standard in the specialty. It covers new developments in the field, particularly the advent of genome-wide sequencing and major updates in cancer. Fifteen new topics have been added, including Sudden cardiac death, Neonatal screening, and Ciliopathies. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both outpatient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered, and where available diagnostic criteria are included. In addition there are chapters on familial cancer and pregnancy-related topics such as fetal anomalies, teratogens, prenatal and pre-implantation diagnosis and non-invasive prenatal testing. The book also provides information on the less common situations where management is particularly complex. Both practical and pertinent, Oxford Desk Reference: Clinical Genetics and Genomics is the companion you need by your side during clinical consultations.

Medical Genetics at a Glance

Medical Genetics at a Glance Author Dorian J. Pritchard
ISBN-10 9781118689011
Release 2013-07-08
Pages 232
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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.

Essential Medical Genetics

Essential Medical Genetics Author Michael Connor
ISBN-10 086542666X
Release 1997-04-29
Pages 248
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Essential Medical Genetics gives a balanced introduction to the basic principles of genetics and how it is applied to the understanding and treatment of diseases with a genetic component. Divided into two sections, basic principles and clinical applications, it covers the information that medical students are taught at the preclinical and clinical levels. This book has been written for clinicians, scientists, counselors and teachers--and any other professionals desiring an understanding of modern medical genetics.

Paediatric Thyroidology

Paediatric Thyroidology Author G. Szinnai
ISBN-10 9783318027211
Release 2014-09-15
Pages 260
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This book presents a comprehensive overview of pediatric thyroid diseases and thus provides a useful tool for clinical problem solving. Opinion leaders in the field present reviews on all relevant diseases of the hypothalamic-pituitary-thyroid axis. Sixteen chapters cover topics ranging from fetal thyroidology, congenital hypothyroidism, central hypothyroidism, inherited defects of thyroid hormone action, cell transport and metabolism to iodine deficiency, autoimmune thyroid disease and thyroid tumors. Written by clinicians, the chapters provide in-depth information and current guidelines for clinical problems encountered in pediatric thyroidology. As a unique feature, a case seminar collection for each chapter presents typical patient histories providing key learning points and key references for clinical problem solving in family medicine, pediatric endocrinology and medical genetics. Providing a succinct update on clinical pediatric thyroidology, this book is an essential tool for pediatric and adult endocrinologists, as well as for general practitioners, pediatricians and medical geneticists.

Microbial Forensics

Microbial Forensics Author Bruce Budowle
ISBN-10 0123820073
Release 2010-10-27
Pages 744
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Microbial Forensics is a rapidly evolving scientific discipline. In the last decade, and particularly due to the anthrax letter attacks in the United States, microbial forensics has become more formalized and has played an increasingly greater role in crime investigations. This has brought renewed interest, development and application of new technologies, and new rules of forensic and policy engagement. It has many applications ranging from biodefense, criminal investigations, providing intelligence information, making society more secure, and helping protect precious resources, particularly human life. A combination of diverse areas is investigated, including the major disciplines of biology, microbiology, medicine, chemistry, physics, statistics, population genetics, and computer science. Microbial Forensics, Second Edition is fully revised and updated and serves as a complete reference of the discipline. It describes the advances, as well as the challenges and opportunities ahead, and will be integral in applying science to help solve future biocrimes. A collection of microbiology, virology, toxicology and mycology as it relates to forensics, in one reference New and expanded content to include statistical analysis of forensic data and legal admissibility and the standards of evidence, to name a few Includes research information and application of that research to crime scene analysis, which will allow practitioners to understand and apply the knowledge to their practice with ease

Clinical Genetics in Nursing Practice

Clinical Genetics in Nursing Practice Author Felissa R. Lashley, PhD, RN, FABMGG
ISBN-10 0826123678
Release 2005-04-15
Pages 584
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Designated a Doody's Core Title! The third edition of this award-winning text provides new and updated knowledge about genetics issues relevant to nursing practice. Read in sequence or used as a reference, this is a comprehensive overview of how genetics affetcs the care that nurses provide. In addition to a summary of basic human genetics and discussion of the Human Genome Project, this new edition includes the latest research findings and implications about inheritance, major genetic disorders (cytogenetics or chromosomal, inherited biochemical, and congenital anomalies), and genetics in twin studies. A consideration of the ethical impact of genetics on society and future generations, as well as information on assisted reproduction round out the overview. Includes over 100 illustrations and photos of specific genetic disorders; tables and figures on the distribution of disease; and an extensive appendix listing associations, organizations, and websites relevant to genetics.

Genes Behavior and the Social Environment

Genes  Behavior  and the Social Environment Author Committee on Assessing Interactions Among Social, Behavioral, and Genetic Factors in Health
ISBN-10 9780309101967
Release 2006-11-07
Pages 384
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Over the past century, we have made great strides in reducing rates of disease and enhancing people's general health. Public health measures such as sanitation, improved hygiene, and vaccines; reduced hazards in the workplace; new drugs and clinical procedures; and, more recently, a growing understanding of the human genome have each played a role in extending the duration and raising the quality of human life. But research conducted over the past few decades shows us that this progress, much of which was based on investigating one causative factor at a time—often, through a single discipline or by a narrow range of practitioners—can only go so far. Genes, Behavior, and the Social Environment examines a number of well-described gene-environment interactions, reviews the state of the science in researching such interactions, and recommends priorities not only for research itself but also for its workforce, resource, and infrastructural needs.

A Practical Guide to Human Cancer Genetics

A Practical Guide to Human Cancer Genetics Author Shirley V. Hodgson
ISBN-10 9781447123750
Release 2013-11-22
Pages 420
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This is a comprehensive and up-to-date guide to the diagnosis, clinical features and management of inherited disorders conferring cancer susceptibility. It is fully updated with much molecular, screening and management information. It covers risk analysis and genetic counselling for individuals with a family history of cancer. It also discusses predictive testing and the organisation of the cancer genetics service. There is information about the genes causing Mendelian cancer predisposing conditions and their mechanism of action. It aims to provide such details in a practical format for geneticists and clinicians in all disciplines.

The Principles of Clinical Cytogenetics

The Principles of Clinical Cytogenetics Author Steven L. Gersen
ISBN-10 9781441916884
Release 2013-03-26
Pages 569
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In this thoroughly revised and expanded third edition of the highly praised classic, The Principles of Clinical Cytogenetics, a panel of hands-on experts update their descriptions of the basic concepts and interpretations involved in chromosome analysis to include the many advances that have occurred in the field. Among the highlights are a full chapter devoted to advances in chromosome microarray, soon to become a standard of care in this field, as well as an update on chromosome nomenclature as reflected in ISCN 2009. Other features include an update on automation to reflect the current state of the art, an update on hematopoietic neoplasms to reflect the new WHO guidelines, and updates on all regulatory changes that have been implemented. Cutting edge and readily accessible, The Principles of Clinical Cytogenetics, Third Edition offers physicians who depend on the cytogenetics laboratory for the diagnosis of their patients, students in cytogenetics programs, graduate and medical students studying for board examinations, cytogenetics technologists, and cytogeneticists a clear understanding of what happens in the cytogenetics laboratory to facilitate accurate and timely diagnoses.

Color Atlas of Genetics

Color Atlas of Genetics Author Eberhard Passarge
ISBN-10 9783132414419
Release 2017-12-13
Pages 474
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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.

Principles and practice of medical genetics

Principles and practice of medical genetics Author Alan E. H. Emery
ISBN-10 0443035830
Release 1990
Pages 2079
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Principles and practice of medical genetics has been writing in one form or another for most of life. You can find so many inspiration from Principles and practice of medical genetics also informative, and entertaining. Click DOWNLOAD or Read Online button to get full Principles and practice of medical genetics book for free.

Handbook of Neurodevelopmental and Genetic Disorders in Children

Handbook of Neurodevelopmental and Genetic Disorders in Children Author Sam Goldstein
ISBN-10 9781606239902
Release 2010-10-19
Pages 588
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This book addresses a broad range of biologically based disorders that affect children's learning and development. Leading authorities review the genetics of each disorder; its course and outcome; associated developmental, cognitive, and psychosocial challenges; and what clinicians and educators need to know about effective approaches to assessment and intervention. --from publisher description

Developmental Behavioral Disorders

Developmental Behavioral Disorders Author Marvin I. Gottlieb
ISBN-10 9781461309390
Release 2013-03-07
Pages 392
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"Child development" has always been a traditional component of well child care and a particular area of interest for pediatricians, child neu rologists, and psychologists. However, it was not until the early 1960s that children with developmental disabilities (i. e. , chronic handicapping disorders) became a major focus of public and professional attention. During this period, children with "special needs" were dramatically catapulted into the limelight and "exceptional" became the buzzword of the day. Public and professional awareness of these issues reached new peaks and recognition of the potential psychosocial impairments of chil dren with developmental disabilities created national anxiety. A variety of factors contributed to an unprecedented societal advocacy for chil dren with developmental problems: (1) a national concern generated by President Kennedy'S particular interest in mental retardation; (2) in creased activity and visibility of parent advocacy/lobbying groups (e. g. , the Association for Children with Learning Disabilities); (3) the enact ment of federal legislation designed to protect the rights of the handi capped (e. g. , PL94-142); and (4) the popularization of developmental behavioral disabilities by the various communications media. Cumulatively these events precipitated a redefinition of the real mean ing of "comprehensive health care for children," resulting in an empha sis on the child's neurodevelopmental, educational, psychological, and social needs. For the pediatrician, a myriad of new management respon sibilities were mandated, in addition to the traditional health care con cerns.