Achondroplasia Unveiled A Comprehensive Exploration Of Genetics Health And Community

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Achondroplasia Unveiled: A Comprehensive Exploration of Genetics, Health, and Community

Author : Dr. Spineanu Eugenia
Publisher : Dr. Spineanu Eugenia
ISBN 13 :
Total Pages : 113 pages
Book Rating : 4./5 ( download)

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Book Synopsis Achondroplasia Unveiled: A Comprehensive Exploration of Genetics, Health, and Community by : Dr. Spineanu Eugenia

Download or read book Achondroplasia Unveiled: A Comprehensive Exploration of Genetics, Health, and Community written by Dr. Spineanu Eugenia and published by Dr. Spineanu Eugenia. This book was released on 2024-07-01 with total page 113 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Achondroplasia Unveiled: A Comprehensive Exploration of Genetics, Health, and Community" is an extensive treatise delving into the intricate dimensions of Achondroplasia. This comprehensive work serves as an illuminating guide, offering an in-depth understanding of the genetic underpinnings, medical intricacies, and holistic aspects surrounding this condition. Within its pages, readers embark on a journey through the historical context and definition of Achondroplasia, tracing its genetic origins and modes of inheritance. The treatise meticulously unravels the mysteries of the FGFR3 gene mutations, shedding light on their impact on skeletal development and growth regulation. Each chapter navigates through epidemiological insights, unraveling prevalence statistics and global perspectives on Achondroplasia.

Bone Dysplasias

Author : Jürgen W. Spranger
Publisher : Oxford University Press, USA
ISBN 13 : 0190626658
Total Pages : 929 pages
Book Rating : 4.1/5 (96 download)

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Book Synopsis Bone Dysplasias by : Jürgen W. Spranger

Download or read book Bone Dysplasias written by Jürgen W. Spranger and published by Oxford University Press, USA. This book was released on 2018 with total page 929 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs "Brilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians." --Radiology This updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. Organized in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders, this new Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders.

Autism and the Environment

Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309108810
Total Pages : 358 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Autism and the Environment by : Institute of Medicine

Download or read book Autism and the Environment written by Institute of Medicine and published by National Academies Press. This book was released on 2008-03-12 with total page 358 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism spectrum disorders (ASD) constitute a major public health problem, affecting one in every 150 children and their families. Unfortunately, there is little understanding of the causes of ASD, and, despite their broad societal impact, many people believe that the overall research program for autism is incomplete, particularly as it relates to the role of environmental factors. The Institute of Medicine's Forum on Neuroscience and Nervous System Disorders, in response to a request from the U.S. Secretary of Health and Human Services, hosted a workshop called "Autism and the Environment: Challenges and Opportunities for Research." The focus was on improving the understanding of the ways in which environmental factors such as chemicals, infectious agents, or physiological or psychological stress can affect the development of the brain. Autism and the Environment documents the concerted effort which brought together the key public and private stakeholders to discuss potential ways to improve the understanding of the ways that environmental factors may affect ASD. The presentations and discussions from the workshop that are described in this book identify a number of promising directions for research on the possible role of different environmental agents in the etiology of autism.

Uncommon Causes of Stroke

Author : Julien Bogousslavsky
Publisher : Cambridge University Press
ISBN 13 : 9780521771450
Total Pages : 418 pages
Book Rating : 4.7/5 (714 download)

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Book Synopsis Uncommon Causes of Stroke by : Julien Bogousslavsky

Download or read book Uncommon Causes of Stroke written by Julien Bogousslavsky and published by Cambridge University Press. This book was released on 2001-05-24 with total page 418 pages. Available in PDF, EPUB and Kindle. Book excerpt: An essential resource for diagnosis and treatment of stroke patients outside the usual clinical categories.

Scientific Frontiers in Developmental Toxicology and Risk Assessment

Author : National Research Council
Publisher : National Academies Press
ISBN 13 : 0309070864
Total Pages : 348 pages
Book Rating : 4.3/5 (9 download)

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Book Synopsis Scientific Frontiers in Developmental Toxicology and Risk Assessment by : National Research Council

Download or read book Scientific Frontiers in Developmental Toxicology and Risk Assessment written by National Research Council and published by National Academies Press. This book was released on 2000-12-21 with total page 348 pages. Available in PDF, EPUB and Kindle. Book excerpt: Scientific Frontiers in Developmental Toxicology and Risk Assessment reviews advances made during the last 10-15 years in fields such as developmental biology, molecular biology, and genetics. It describes a novel approach for how these advances might be used in combination with existing methodologies to further the understanding of mechanisms of developmental toxicity, to improve the assessment of chemicals for their ability to cause developmental toxicity, and to improve risk assessment for developmental defects. For example, based on the recent advances, even the smallest, simplest laboratory animals such as the fruit fly, roundworm, and zebrafish might be able to serve as developmental toxicological models for human biological systems. Use of such organisms might allow for rapid and inexpensive testing of large numbers of chemicals for their potential to cause developmental toxicity; presently, there are little or no developmental toxicity data available for the majority of natural and manufactured chemicals in use. This new approach to developmental toxicology and risk assessment will require simultaneous research on several fronts by experts from multiple scientific disciplines, including developmental toxicologists, developmental biologists, geneticists, epidemiologists, and biostatisticians.

Smith's Recognizable Patterns of Human Malformation

Author : Kenneth Lyons Jones
Publisher :
ISBN 13 :
Total Pages : 888 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Smith's Recognizable Patterns of Human Malformation by : Kenneth Lyons Jones

Download or read book Smith's Recognizable Patterns of Human Malformation written by Kenneth Lyons Jones and published by . This book was released on 1997 with total page 888 pages. Available in PDF, EPUB and Kindle. Book excerpt: This user-friendly 5th Edition provides concise but complete information on numerous common and rare disorders that cause human malformation. Includes an outline of the salient features of each condition, as well as material on natural history, etiology, and pathogenesis. The text is accompanied by helpful illustrations and reference lists. Organized to allow for easy access to essential information.

Pediatric Cancer Genetics

Author : Nathaniel H. Robin
Publisher : Elsevier Health Sciences
ISBN 13 : 0323495966
Total Pages : 135 pages
Book Rating : 4.3/5 (234 download)

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Book Synopsis Pediatric Cancer Genetics by : Nathaniel H. Robin

Download or read book Pediatric Cancer Genetics written by Nathaniel H. Robin and published by Elsevier Health Sciences. This book was released on 2017-08-22 with total page 135 pages. Available in PDF, EPUB and Kindle. Book excerpt: Get a quick, expert overview of the many key facets of pediatric cancer genetics with this concise, practical resource by Dr. Nathaniel H. Robin and Meagan Farmer, MS, CGC, MBA. Ideal for pediatric oncologists and all providers who care for children, this easy-to-read reference addresses the remarkable potential of genetic testing as well as the complexities of choosing the correct test, understanding the results, and counseling the family. - Features a wealth of information on pediatric cancer genetics, including the epidemiology and biology of cancer and the genetic evaluation process and role of genetic counsellors - Highlights examples of syndromes that present in childhood and increase susceptibility to cancer - Discusses the genetic evaluation process in context of the multidisciplinary care of children with cancer - Considers the ethical and legal issues of genetic testing in children and provides illustrative case examples - Consolidates today's available information and guidance in this timely area into one convenient resource - Features a wealth of information on pediatric cancer genetics, including the epidemiology and biology of cancer and the genetic evaluation process and role of genetic counselors. - Highlights examples of syndromes that present in childhood and increase susceptibility to cancer. - Discusses the genetic evaluation process in context of the multidisciplinary care of children with cancer. - Considers the ethical and legal issues of genetic testing in children and provides illustrative case examples. - Consolidates today's available information and guidance in this timely area into one convenient resource.

The Neuronal Ceroid Lipofuscinoses (Batten Disease)

Author : Sara Mole
Publisher : OUP Oxford
ISBN 13 : 019101558X
Total Pages : 772 pages
Book Rating : 4.1/5 (91 download)

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Book Synopsis The Neuronal Ceroid Lipofuscinoses (Batten Disease) by : Sara Mole

Download or read book The Neuronal Ceroid Lipofuscinoses (Batten Disease) written by Sara Mole and published by OUP Oxford. This book was released on 2011-03-10 with total page 772 pages. Available in PDF, EPUB and Kindle. Book excerpt: The neuronal ceroid lipofuscinoses are an extremely rare group of inherited neurodegenerative diseases that primarily affect children. Core symptoms of these conditions typically include epilepsy, cognitive decline and visual failure. These diseases are so rare that professionals who come into contact with them need a consultative reference work that enables them to become expert, or identify who to contact for more details. Fully updated and revised, this second edition continues to be the definitive volume on this devastating group of disorders. Written by an international collection of authorities in the field, it provides invaluable advice on their diagnosis, patient care, and new treatments that are available. This new edition of the definitive reference text on the neuronal ceroid lipofuscinoses will prove useful for clinicians, family physicians, research scientists, diagnostic laboratories, families affected by the disease as well as by workers in industry planning translational research.

Mapping and Sequencing the Human Genome

Author : National Research Council
Publisher : National Academies Press
ISBN 13 : 0309038405
Total Pages : 128 pages
Book Rating : 4.3/5 (9 download)

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Book Synopsis Mapping and Sequencing the Human Genome by : National Research Council

Download or read book Mapping and Sequencing the Human Genome written by National Research Council and published by National Academies Press. This book was released on 1988-01-01 with total page 128 pages. Available in PDF, EPUB and Kindle. Book excerpt: There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.

Pediatric Board Study Guide

Author : Osama Naga
Publisher : Springer
ISBN 13 : 3319101153
Total Pages : 611 pages
Book Rating : 4.3/5 (191 download)

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Book Synopsis Pediatric Board Study Guide by : Osama Naga

Download or read book Pediatric Board Study Guide written by Osama Naga and published by Springer. This book was released on 2015-03-27 with total page 611 pages. Available in PDF, EPUB and Kindle. Book excerpt: Covers the most frequently asked and tested points on the pediatric board exam. Each chapter offers a quick review of specific diseases and conditions clinicians need to know during the patient encounter. Easy-to-use and comprehensive, clinicians will find this guide to be the ideal final resource needed before taking the pediatric board exam.

A Son of the Circus

Author : John Irving
Publisher : Vintage Canada
ISBN 13 : 0307362000
Total Pages : 758 pages
Book Rating : 4.3/5 (73 download)

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Book Synopsis A Son of the Circus by : John Irving

Download or read book A Son of the Circus written by John Irving and published by Vintage Canada. This book was released on 2012-05-08 with total page 758 pages. Available in PDF, EPUB and Kindle. Book excerpt: A Hindi film star and an American missionary are twins separated at birth; a dwarf — a former circus clown — mistakes the missionary for the movie star. And stalking one of them is a serial killer...

Human Genome Editing

Author : National Academies of Sciences, Engineering, and Medicine
Publisher : National Academies Press
ISBN 13 : 0309452880
Total Pages : 329 pages
Book Rating : 4.3/5 (94 download)

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Book Synopsis Human Genome Editing by : National Academies of Sciences, Engineering, and Medicine

Download or read book Human Genome Editing written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2017-08-13 with total page 329 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genome editing is a powerful new tool for making precise alterations to an organism's genetic material. Recent scientific advances have made genome editing more efficient, precise, and flexible than ever before. These advances have spurred an explosion of interest from around the globe in the possible ways in which genome editing can improve human health. The speed at which these technologies are being developed and applied has led many policymakers and stakeholders to express concern about whether appropriate systems are in place to govern these technologies and how and when the public should be engaged in these decisions. Human Genome Editing considers important questions about the human application of genome editing including: balancing potential benefits with unintended risks, governing the use of genome editing, incorporating societal values into clinical applications and policy decisions, and respecting the inevitable differences across nations and cultures that will shape how and whether to use these new technologies. This report proposes criteria for heritable germline editing, provides conclusions on the crucial need for public education and engagement, and presents 7 general principles for the governance of human genome editing.

Genetic Nature/Culture

Author : Alan H. Goodman
Publisher : Univ of California Press
ISBN 13 : 0520237935
Total Pages : 330 pages
Book Rating : 4.5/5 (22 download)

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Book Synopsis Genetic Nature/Culture by : Alan H. Goodman

Download or read book Genetic Nature/Culture written by Alan H. Goodman and published by Univ of California Press. This book was released on 2003-11-06 with total page 330 pages. Available in PDF, EPUB and Kindle. Book excerpt: Individual essays address issues raised by the science, politics, and history of race, evolution, and identity; genetically modified organisms and genetic diseases; gene work and ethics; and the boundary between humans and animals. The result is an entree to the complicated nexus of questions prompted by the power and importance of genetics and genetic thinking, and the dynamic connections linking culture, biology, nature, and technoscience. The volume offers critical perspectives on science and culture, with contributions that span disciplinary divisions and arguments grounded in both biological perspectives and cultural analysis.

Human Evolutionary Genetics

Author : Mark Jobling
Publisher : Garland Science
ISBN 13 : 1317952251
Total Pages : 1538 pages
Book Rating : 4.3/5 (179 download)

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Book Synopsis Human Evolutionary Genetics by : Mark Jobling

Download or read book Human Evolutionary Genetics written by Mark Jobling and published by Garland Science. This book was released on 2013-06-25 with total page 1538 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human Evolutionary Genetics is a groundbreaking text which for the first time brings together molecular genetics and genomics to the study of the origins and movements of human populations. Starting with an overview of molecular genomics for the non-specialist (which can be a useful review for those with a more genetic background), the book shows h

Human Genetics

Author : Ricki Lewis
Publisher : McGraw-Hill Science, Engineering & Mathematics
ISBN 13 : 9780072951745
Total Pages : 439 pages
Book Rating : 4.9/5 (517 download)

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Book Synopsis Human Genetics by : Ricki Lewis

Download or read book Human Genetics written by Ricki Lewis and published by McGraw-Hill Science, Engineering & Mathematics. This book was released on 2004-02 with total page 439 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human Genetics, 6/e is a non-science majors human genetics text that clearly explains what genes are, how they function, how they interact with the environment, and how our understanding of genetics has changed since completion of the human genome project. It is a clear, modern, and exciting book for citizens who will be responsible for evaluating new medical options, new foods, and new technologies in the age of genomics.

Physical Assessment of the Newborn

Author : Ellen P. Tappero, DNP, RN, NNP-BC
Publisher : Springer Publishing Company
ISBN 13 : 0826121934
Total Pages : 392 pages
Book Rating : 4.8/5 (261 download)

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Book Synopsis Physical Assessment of the Newborn by : Ellen P. Tappero, DNP, RN, NNP-BC

Download or read book Physical Assessment of the Newborn written by Ellen P. Tappero, DNP, RN, NNP-BC and published by Springer Publishing Company. This book was released on 2014-09-01 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: Physical Assessment of the Newborn, 5th Edition, is a comprehensive text with a wealth of detailed information on the assessment of the newborn. This valuable and essential resource illustrates the principles and skills needed to gather assessment data systematically and accurately, and also provides a knowledge base for interpretation of this data. Coverage addresses: gestational assessment, neurologic assessment, neonatal history, assessment of the dysmorphic infant, and systemic evaluation of individual body systems, as well as key information on behavioral and pain assessment, including the use of specific tools with various groups ranging from term to extremely preterm infants. Numerous tables, figures, illustrations, and photos, many of them in full color, are a major strength that enhances the book’s usefulness as a clinical resource. The text is an excellent teaching tool and resource for anyone who performs newborn examinations including nurses, neonatal and pediatric nurse practitioners, nurse-midwives, physicians and therapists. It can also serve as a core text for any program preparing individuals for advanced practice roles in neonatal care. KEY FEATURES: An authoritative and renowned text that comprehensively addresses all key aspects of newborn assessment Provides a well-ordered evaluation of individual body systems. Assists the practitioner in identifying infant state, behavioral clues, and signs of pain, facilitating individualized care. Comprehensively addresses the tremendous range of variation among newborns of different gestational ages. The content is amplified by numerous photos and illustrations, many in full color Includes Power Point slides and an Image Bank

Genetics and Genomics in Medicine

Author : Tom Strachan
Publisher : Taylor & Francis
ISBN 13 : 1317594304
Total Pages : 545 pages
Book Rating : 4.3/5 (175 download)

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Book Synopsis Genetics and Genomics in Medicine by : Tom Strachan

Download or read book Genetics and Genomics in Medicine written by Tom Strachan and published by Taylor & Francis. This book was released on 2014-06-02 with total page 545 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics and Genomics in Medicine is a new textbook written for undergraduate students, graduate students, and medical researchers that explains the science behind the uses of genetics and genomics in medicine today. Rather than focusing narrowly on rare inherited and chromosomal disorders, it is a comprehensive and integrated account of how geneti