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Author: Robert P. Erickson MD Publisher: Oxford University Press ISBN: 0190275421 Category : Medical Languages : en Pages : 1600
Book Description
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: 019514502X Category : Medical Languages : en Pages : 1110
Book Description
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: 9780071363198 Category : Genetic disorders Languages : en Pages : 6338
Book Description
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Author: Mark W. Kline Publisher: McGraw Hill Professional ISBN: 1259588602 Category : Medical Languages : en Pages : 2951
Book Description
Publisher's Note: Products purchased from Third Party sellers are not guaranteed by the publisher for quality, authenticity, or access to any online entitlements included with the product. The landmark pediatrics reference – completely reinvented by an all new team of editors Rudolph's Pediatrics has virtually defined the pediatric field for over a century, becoming one of the most important and well-respected pediatrics texts ever published. Renowned for its balance of clinical features and treatment of disease with underlying biological principles, this classic sourcebook has helped generations of pediatricians optimize their care of infants, children, and adolescents. The Twenty-Third Edition of Rudolph's has been completely restructured and streamlined thanks to an all new team of editors whose goal was to reinvent this classic with today’s busy practitioner in mind. Presented in full color, the Twenty-Third Edition provides an up-to-date, in-depth survey of pediatric medicine unmatched by any other text. With its algorithmic approach to pediatric systems, the book facilitates the diagnosis and treatment of both common and uncommon pediatric illnesses; and it reflects new technologies and advances in molecular medicine that continue to evolve with current thinking about normal childhood development and pediatric disease processes. • New team of editors achieves consistency in both tone and depth of content • Contributions from section editors and authors from leading academic pediatrics programs give expert coverage of general pediatrics and all of the pediatric sub-specialties • Streamlined and consistent format for most chapters outlining Pathogenesis and Epidemiology, Clinical Manifestations, Diagnosis, Treatment, and Prevention • New 2-Volume presentation improves portability • Hundreds of full-color illustrations and tables • The acclaimed balance between clinical applicability and underlying biological principles offers pediatricians a depth of coverage not found anywhere else • Brand new or significantly revised chapters include: Complementary and Integrative Pediatrics, Childhood Adversity and Toxic Stress, Autism Spectrum Disorder, Pediatric Depression and Bipolar Spectrum Disorders, Extracorporeal Membrane Oxygenation (ECMO), Palliative Care for Children with Chronic Diseases, Arboviruses (with new coverage of Zika virus and chikungunya virus), Physiologic Basis of Pulmonary Function; Acute Lymphoblastic Leukemia; Neuroblastoma “You'd be hard pressed to find a resource that matches up to the comprehensive scope of Rudolph's. It's no wonder it's a staple in most offices and hospitals.” -Doody’s Review Service
Author: David Epstein Publisher: Penguin ISBN: 161723012X Category : Sports & Recreation Languages : en Pages : 370
Book Description
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: John C. Carey Publisher: John Wiley & Sons ISBN: 1119432677 Category : Science Languages : en Pages : 1104
Book Description
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: Wendell Weber Publisher: Oxford University Press ISBN: Category : Medical Languages : en Pages : 460
Book Description
Genes are important modifiers of the human response to drugs, hormones, and toxins. Medical patients and healthy individuals alike display significant differences in response and suffer adverse effects as a result of exposure to many therapeutic agents and occupational chemicals. In this substantially revised second edition, highly regarded authority Wendell Weber brings together laboratory methods and epidemiologic studies in defining the role of heredity in human drug response. The book is divided into two major sections, one covering pharmacognetic concepts and the second the application of those concepts.
Author: T.V.N. Persaud Publisher: Springer Science & Business Media ISBN: 9401166218 Category : Medical Languages : en Pages : 395
Book Description
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: Lynn T. Staheli Publisher: Cambridge University Press ISBN: 9780521571067 Category : Medical Languages : en Pages : 302
Book Description
The term arthrogryposis describes a range of congenital contractures that lead to childhood deformities. It encompasses a number of syndromes and sporadic deformities that are rare individually but collectively are not uncommon. Yet, the existing medical literature on arthrogryposis is sparse and often confusing. The aim of this book is to provide individuals affected with arthrogryposis, their families, and health care professionals with a helpful guide to better understand the condition and its therapy. With this goal in mind, the editors have taken great care to ensure that the presentation of complex clinical information is at once scientifically accurate, patient oriented, and accessible to readers without a medical background. The book is authored primarily by members of the medical staff of the Arthrogryposis Clinic at Children's Hospital and Medical Center in Seattle, Washington, one of the leading teams in the management of the condition, and will be an invaluable resource for both health care professionals and families of affected individuals.
Author: Robert P. Erickson
Author: Robert P. Erickson
Author: Robert P. Erickson MD
Author: Charles J. Epstein
Author: Charles R. Scriver
Author: Mark W. Kline
Author: David Epstein
Author: John C. Carey
Author: Wendell Weber
Author: T.V.N. Persaud
Author: Lynn T. Staheli