Epstein S Inborn Errors Of Development

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Epstein S Inborn Errors Of Development

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Author : Robert P. Erickson MD
language : en
Publisher: Oxford University Press
Release Date : 2016-06-30

Epstein S Inborn Errors Of Development written by Robert P. Erickson MD and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-06-30 with Medical categories.

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.

Nelson Textbook Of Pediatrics E Book

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Author : Robert Kliegman
language : en
Publisher: Elsevier Health Sciences
Release Date : 2019-04-01

Nelson Textbook Of Pediatrics E Book written by Robert Kliegman and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-04-01 with Medical categories.

Welcome to the 21st Edition of Nelson Textbook of Pediatrics – the reference of choice among pediatricians, pediatric residents, and others involved in the care of young patients. This fully revised edition continues to provide the breadth and depth of knowledge you expect from Nelson, while also keeping you up to date with new advances in the science and art of pediatric practice. Authoritative and reader-friendly, it delivers the information you need in a concise, easy-to-use format for everyday reference and study. From rapidly changing diagnostic and treatment protocols to new technologies to the wide range of biologic, psychologic, and social problems faced by children today, this comprehensive reference keeps you on the cutting edge of the very best in pediatric care. - Includes more than 70 new chapters, including Postural Orthostatic Tachycardia Syndrome (POTS), Rare and Undiagnosed Diseases, Approach to Mitochondrial Disorders, Electronic Nicotine Delivery Systems, Zika, update on Ebola, Epigenetics, Autoimmune Encephalitis, Global Health, Racism, Media Violence, Strategies for Health Behavior Change, Positive Parenting, and many more. - Features hundreds of new figures and tables throughout for visual clarity and quick reference. - Offers new and expanded information on CRISPR gene editing; LGBT health care; gun violence; vaccinations; immune treatment with CAR-T cells; new technology in imaging and genomics; new protocols in cancer, genetics, immunology, and pulmonary medicine; and much more. - Provides fresh perspectives from four new associate editors: Nathan J. Blum of The Children's Hospital of Philadelphia; Karen Wilson of Mt. Sinai School of Medicine in New York; Samir S. Shah of Cincinnati Children's Hospital Medical Center; and Robert C. Tasker of Boston Children's Hospital. - Remains your indispensable source for definitive, evidence-based answers on every aspect of pediatric care.

Nelson Textbook Of Pediatrics E Book

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Author : Robert M. Kliegman
language : en
Publisher: Elsevier Health Sciences
Release Date : 2015-04-17

Nelson Textbook Of Pediatrics E Book written by Robert M. Kliegman and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-04-17 with Medical categories.

After more than 75 years, Nelson Textbook of Pediatrics remains your indispensable source for definitive, state-of-the-art answers on every aspect of pediatric care. Embracing the new advances in science as well as the time-honored art of pediatric practice, this classic reference provides the essential information that practitioners and other care providers involved in pediatric health care throughout the world need to understand to effectively address the enormous range of biologic, psychologic, and social problems that our children and youth may face. Brand-new chapters and comprehensive revisions throughout ensure that you have the most recent information on diagnosis and treatment of pediatric diseases based on the latest recommendations and methodologies. Form a definitive diagnosis and create the best treatment plans possible using evidence-based medicine and astute clinical experiences from leading international authors—many new to this edition. A NEW layout provides superior portability and exceptional ease of use. Gain a more complete perspective. Along with a broader emphasis on imaging and molecular diagnoses and updated references, the new edition includes an increased focus on international issues to ensure relevance in pediatrics practice throughout the world. Effectively apply the latest techniques and approaches with complete updates throughout 35 new chapters, including: Innovations in Addressing Child Health and Survival in Low Income Settings; Developmental Domains and Theories of Cognition; The Reggio Emilia Educational Approach Catatonia ; Refeeding Syndrome; Altitude-associated Illness; Genetic Approaches to Rare and Undiagnosed Diseases; Healthcare−Associated Infections; Intrapartum and Peripartum Infections; Bath salts and other drugs of abuse; Small Fiber Polyneuropathy; Microbiome; Kingella kingae; Mitochondrial Neurogastrointestinal Encephalomyopathy; Nonalcoholic Fatty Liver Disease; Plagiocephaly; CNS Vasculitis; Anterior Cruciate Ligament Rupture; and Sports-Related Traumatic Brain Injury. Recognize, diagnose, and manage genetic and acquired conditions more effectively. A new Rehabilitation section with 10 new chapters, including: Evaluation of the Child for Rehabilitative Services; Severe Traumatic Brain Injury; Spinal Cord Injury and Autonomic Crisis Management; Spasticity; Birth Brachial Plexus Palsy; Traumatic and Sports-Related Injuries; Meningomyelocele; Health and Wellness for Children with Disabilities. Manage the transition to adult healthcare for children with chronic diseases through discussions of the overall health needs of patients with congenital heart defects, diabetes, and cystic fibrosis. Understand the principles of therapy and which drugs and dosages to prescribe for every disease.

Inherited Metabolic Disease In Adults

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Author : Carla E. M. Hollak
language : en
Publisher: Oxford University Press
Release Date : 2016-07-19

Inherited Metabolic Disease In Adults written by Carla E. M. Hollak and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-07-19 with Medical categories.

As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.

Chromosome Abnormalities And Genetic Counseling

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Author : R.J. McKinlay Gardner
language : en
Publisher: Oxford University Press
Release Date : 2018-02-06

Chromosome Abnormalities And Genetic Counseling written by R.J. McKinlay Gardner and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-02-06 with Medical categories.

Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.

Genetic Skin Disorders

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Author : Virginia P. Sybert
language : en
Publisher: Oxford University Press
Release Date : 2017-01-02

Genetic Skin Disorders written by Virginia P. Sybert and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-01-02 with Medical categories.

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

Inborn Errors Of Development

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Author : Charles J. Epstein
language : en
Publisher: Oxford University Press, USA
Release Date : 2008

Inborn Errors Of Development written by Charles J. Epstein and has been published by Oxford University Press, USA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008 with Medical categories.

Honored by the Association of American Publishers as the Best Medical Book of 2004, Inborn Errors is the definitive work on genetically caused abnormalities of human development. Despite the explosion in genetic advances, the causes of two-thirds of all birth defects remain unknown. However, we are on the brink of a revolution in this area, and Inborn Errors is at the forefront. It is the first book to connect the disease-causing gene to its biochemical pathway and to the structural/functional disorder. Mutations of the gene, the clinical picture, genetic counseling and prognosis, and any known treatments are discussed. For medical geneticists, genetic counselors, pediatricians, and developmental biologists, the book is a unique and groundbreaking reference.

Epstein S Inborn Errors Of Development

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Author : Robert P. Erickson
language : en
Publisher: Oxford University Press
Release Date : 2016

Epstein S Inborn Errors Of Development written by Robert P. Erickson and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016 with Medical categories.

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. It is a top-to-bottom revision of the landmark text that both revolutionized and accelerated the field of human genetics.

Pharmacogenetics

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Author : Wendell Weber
language : en
Publisher: Oxford University Press
Release Date : 2008-04-02

Pharmacogenetics written by Wendell Weber and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008-04-02 with Medical categories.

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.

Brenner Rector S The Kidney

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Author : Floyd C. Rector
language : en
Publisher:
Release Date : 2004

Brenner Rector S The Kidney written by Floyd C. Rector and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2004 with Medical categories.

This essential text has expanded the scope of topics covered, in particular by adding 10 new chapter headings in addition to the many already added to previous editions.