Epsteins Inborn Errors Of Development

Author : Robert P. Erickson MD
Publisher : Oxford University Press
ISBN 13 : 0190275421
Total Pages : 1600 pages
Book Rating : 4.26/5 ( download)

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Download or read book Epstein's Inborn Errors of Development written by Robert P. Erickson MD and published by Oxford University Press. This book was released on 2016-06-30 with total page 1600 pages. Available in PDF, EPUB and Kindle. Book excerpt: This third edition of Epstein's Inborn Errors of Development provides essays on pathways of development and thoughtful reviews of dysmorphic syndromes for which the causative gene has been identified. The authors of the chapters on each disorder have provided in depth analyses of the role of the gene in the relevant developmental pathway and the mechanism by which mutations in the gene cause the developmental pathology.

Author : Charles J. Epstein
Publisher : Oxford University Press, USA
ISBN 13 : 019514502X
Total Pages : 1110 pages
Book Rating : 4.21/5 ( download)

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Download or read book Inborn Errors of Development written by Charles J. Epstein and published by Oxford University Press, USA. This book was released on 2004 with total page 1110 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this book, the clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview. For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical descriptions, along with discussions of therapy and counseling, are provided. This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them.

Author : Charles R. Scriver
Publisher : New York ; Montreal : McGraw-Hill
ISBN 13 : 9780071363198
Total Pages : 6338 pages
Book Rating : 4.9X/5 ( download)

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Download or read book The Metabolic & Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

Author : John C. Carey
Publisher : John Wiley & Sons
ISBN 13 : 1119432677
Total Pages : 1104 pages
Book Rating : 4.78/5 ( download)

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Download or read book Cassidy and Allanson's Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Author : National Research Council
Publisher : National Academies Press
ISBN 13 : 0309142393
Total Pages : 348 pages
Book Rating : 4.97/5 ( download)

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Download or read book Strengthening Forensic Science in the United States written by National Research Council and published by National Academies Press. This book was released on 2009-07-29 with total page 348 pages. Available in PDF, EPUB and Kindle. Book excerpt: Scores of talented and dedicated people serve the forensic science community, performing vitally important work. However, they are often constrained by lack of adequate resources, sound policies, and national support. It is clear that change and advancements, both systematic and scientific, are needed in a number of forensic science disciplines to ensure the reliability of work, establish enforceable standards, and promote best practices with consistent application. Strengthening Forensic Science in the United States: A Path Forward provides a detailed plan for addressing these needs and suggests the creation of a new government entity, the National Institute of Forensic Science, to establish and enforce standards within the forensic science community. The benefits of improving and regulating the forensic science disciplines are clear: assisting law enforcement officials, enhancing homeland security, and reducing the risk of wrongful conviction and exoneration. Strengthening Forensic Science in the United States gives a full account of what is needed to advance the forensic science disciplines, including upgrading of systems and organizational structures, better training, widespread adoption of uniform and enforceable best practices, and mandatory certification and accreditation programs. While this book provides an essential call-to-action for congress and policy makers, it also serves as a vital tool for law enforcement agencies, criminal prosecutors and attorneys, and forensic science educators.

Author : David Epstein
Publisher : Penguin
ISBN 13 : 161723012X
Total Pages : 370 pages
Book Rating : 4.27/5 ( download)

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Download or read book The Sports Gene written by David Epstein and published by Penguin. This book was released on 2014-04-29 with total page 370 pages. Available in PDF, EPUB and Kindle. Book excerpt: The New York Times bestseller – with a new afterword about early specialization in youth sports – from the author of Range: Why Generalists Triumph in a Specialized World. The debate is as old as physical competition. Are stars like Usain Bolt, Michael Phelps, and Serena Williams genetic freaks put on Earth to dominate their respective sports? Or are they simply normal people who overcame their biological limits through sheer force of will and obsessive training? In this controversial and engaging exploration of athletic success and the so-called 10,000-hour rule, David Epstein tackles the great nature vs. nurture debate and traces how far science has come in solving it. Through on-the-ground reporting from below the equator and above the Arctic Circle, revealing conversations with leading scientists and Olympic champions, and interviews with athletes who have rare genetic mutations or physical traits, Epstein forces us to rethink the very nature of athleticism.

Author : Frederick J. Suchy
Publisher : Cambridge University Press
ISBN 13 : 1108911374
Total Pages : 875 pages
Book Rating : 4.75/5 ( download)

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Download or read book Liver Disease in Children written by Frederick J. Suchy and published by Cambridge University Press. This book was released on 2021-03-18 with total page 875 pages. Available in PDF, EPUB and Kindle. Book excerpt: Liver disease in children is increasing in prevalence, placing a huge burden on healthcare systems and often requiring long-term management. Offering an integrative approach to the science and clinical practice of pediatric hepatology, this is the definitive reference text for improved diagnosis and treatment strategies. In the new edition of this authoritative text, chapters have been thoroughly revised in line with major advances in the field, such as recognizing the increased frequency of fatty liver disease, and how genetic testing has the potential to establish earlier diagnoses for a variety of diseases. Disorders covered include cholestasis, metabolic disorders and hepatitis, with their presentation across the spectrum of infancy, childhood and adolescence discussed. The indications and surgical aspects of liver transplant are explained and post-transplant care is described in detail. This is a valuable resource for pediatricians, hepatologists, gastroenterologists and all clinicians involved in the care of children with liver diseases.

Author : T.V.N. Persaud
Publisher : Springer Science & Business Media
ISBN 13 : 9401166218
Total Pages : 395 pages
Book Rating : 4.18/5 ( download)

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Download or read book Problems of Birth Defects written by T.V.N. Persaud and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 395 pages. Available in PDF, EPUB and Kindle. Book excerpt: Surprisingly, the beginning of a modern approach This collection of articles and commentaries is an to the problems of birth defects is relatively recent integration of information from many disciplines, and dates from Gregg's classical report in 1941 that and presents a comprehensive survey of both recent mothers who contracted rubella during the first tri and previously reported work related to the major mester of pregnancy gave birth to infants with severe aspects of birth defects. In particular, an attempt multiple anomalies. For the first time, an environ has been made to provide a critical assessment of mental agent was found to be teratogenic in man current concepts and to identify areas in need of and was documented in a thoroughly convincing further investigation. manner. Since then, many important discoveries The scope of this volume and space limitations and significant developments have been made, par precluded discussion of and reference to all papers ticularly in the areas of environmental teratogenesis, of relevance or importance: a work of the present hereditary mechanisms, and prenatal diagnosis. nature must necessarily be selective. Some good In recent years, there has been an impressive papers have been left out or given relatively little surge of interest in the causes and prevention of consideration. It is my hope that the list of Further birth defects. Undoubtedly this resulted not only References will be consulted and should compensate from the thalidomide tragedy, but also from the for this lack of completeness.

Author : Amos Etzioni
Publisher : Academic Press
ISBN 13 : 0124115543
Total Pages : 377 pages
Book Rating : 4.45/5 ( download)

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Download or read book Primary Immunodeficiency Disorders written by Amos Etzioni and published by Academic Press. This book was released on 2014-09-13 with total page 377 pages. Available in PDF, EPUB and Kindle. Book excerpt: Primary Immunodeficiency Disorders: A Historic and Scientific Perspective provides a complete historical context that is crucial for students and researchers concerned with primary immunodeficiency. When researchers have a poor understanding of the way we arrived where we are in research, they can miss important points about a disease, or miss out on how to approach new diseases. This historical knowledge of research can assist greatly by showing how it was done in the past, demonstrating the successes and failures, so that it can be done better in the future. This book provides an understanding of the process going from clinical problem to lab and back to the clinic, based on historical experiences. Its chapters proceed from the discovery of the T and B cell lineages through the first BMT for immunodeficiency disorder; lab investigation and gene therapy for PID; the discovery of the gene for AT and its function; understanding cytokine defects; and many other stops along the way. Facilitates communication among physicians and other investigators concerned with immunological and inflammatory diseases Summarizes for the first time all the known facts from 60 years of primary immunodeficiency research, and teaches how an important field in medicine was established Provides stimulating discussions on developing new medical therapiesHighlights the importance of studying humans to understand mechanisms of disease that affect humans

Author : Marschall S. Runge
Publisher : Springer Science & Business Media
ISBN 13 : 1592598781
Total Pages : 604 pages
Book Rating : 4.86/5 ( download)

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Download or read book Principles of Molecular Cardiology written by Marschall S. Runge and published by Springer Science & Business Media. This book was released on 2007-11-14 with total page 604 pages. Available in PDF, EPUB and Kindle. Book excerpt: An easy-to-read survey of all the latest developments in molecular cardiologic research and therapy. The authors explain in a readable style the complex process of the heart's development, the molecular basis of cardiovascular diseases, and the translation of these research advances to actual clinical treatments. The expert information provided here serves as an invaluable building block for novel treatments of cardiovascular diseases and includes a comprehensive discussion of cardiac function and dysfunction, coronary artery disease, cardiac arrhythmias, vascular diseases, and risk factors for cardiovascular disease. These state-of-the-art approaches to molecular cardiologic research include critical discussion of such topics as the molecular events that regulate angiogenesis and the potential for angiogenic therapy, emerging therapies for arrhythmias, and a description of the molecular biology of aging and its impact on the cardiovascular system.