Atlas Of X Linked Intellectual Disability Syndromes
DOWNLOAD
Download Atlas Of X Linked Intellectual Disability Syndromes PDF/ePub or read online books in Mobi eBooks. Click Download or Read Online button to get Atlas Of X Linked Intellectual Disability Syndromes book now. This website allows unlimited access to, at the time of writing, more than 1.5 million titles, including hundreds of thousands of titles in various foreign languages. If the content not found or just blank you must refresh this page
Atlas Of X Linked Intellectual Disability Syndromes
DOWNLOAD
Author : Roger E. Stevenson
language : en
Publisher: Oxford University Press
Release Date : 2012-07-12
Atlas Of X Linked Intellectual Disability Syndromes written by Roger E. Stevenson 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 2012-07-12 with Medical categories.
The Atlas of Intellectual Disability Syndromes presents a concise description of 150 clinically distinctive syndromes caused by genes on the X chromosome. Each entry includes photographs and a differential matrix of similar syndromes. Appendices identify syndromes with common features and provide the location or mapping limits and function of responsible genes.
X Linked Mental Retardation
DOWNLOAD
Author : Roger E. Stevenson
language : en
Publisher:
Release Date : 2000
X Linked Mental Retardation written by Roger E. Stevenson and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2000 with Medical categories.
This is a comprehensive and up-to-date survey of mental retardation caused by genes on the X chromosome. Clinical and laboratory data on 130 syndromes are presented in a concise and consistent manner. Each syndrome is defined and information is provided on somatic features, growth and development, neurological signs, cognitive performance, imaging and other laboratory findings, and when possible, the nature and localization of the responsible gene. Craniofacial and other somatic findings are extensively illustrated. A differential matrix accompanies each syndrome description to assist the reader in identifying other X-linked syndromes with overlapping features. As background, the X chromosome and the emergence of the concept of X-linked mental retardation are discussed. X-chromosome maps show the location and mapping limits of the responsible genes. The authors have extensive experience in the clinical and laboratory delineation of X-linked mental retardation. They have described new syndromes, regionally mapped disease loci on the X chromosome, and in several cases isolated the genes responsible for X-linked syndromes.
Atlas Of Genodermatoses
DOWNLOAD
Author : Ruggero Caputo
language : en
Publisher: CRC Press
Release Date : 2005-12-12
Atlas Of Genodermatoses written by Ruggero Caputo and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2005-12-12 with Medical categories.
A lavishly illustrated guide to almost 200 inherited diseases of the skin, hair, and nails. Each entry includes synonyms, age of onset, clinical findings, complications, course, laboratory findings, diagnosis, therapy, and key references, adding up to far more than just a collection of photographs. In addition to being a clinical primer, this is also a work of scientific research and contains the first printed description of two new syndromes. The fast-moving world of genetic research means that the latest genetic correlations, included here, render previous texts out of date. All specialists in Dermatology and Pediatrics should find this an invaluable front-line resource in the clinic.
Cassidy And Allanson S Management Of Genetic Syndromes
DOWNLOAD
Author : John C. Carey
language : en
Publisher: John Wiley & Sons
Release Date : 2021-01-27
Cassidy And Allanson S Management Of Genetic Syndromes written by John C. Carey and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-01-27 with Science categories.
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.
Bone Dysplasias
DOWNLOAD
Author : Jürgen W. Spranger
language : en
Publisher: Oxford University Press
Release Date : 2018-10-25
Bone Dysplasias written by Jürgen W. Spranger 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 2018-10-25 with Medical categories.
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.
A Video Atlas Of Neuromuscular Disorders
DOWNLOAD
Author : Aziz Shaibani
language : en
Publisher: Oxford University Press
Release Date : 2014-09-25
A Video Atlas Of Neuromuscular Disorders written by Aziz Shaibani 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 2014-09-25 with Medical categories.
The first real cases video atlas of neuromuscular disorders that is supplemented with multiple-choice questions, and updates on the illustrated topics. It is easy to search and read. It is perfect for preparation to the neurology and neuromuscular boards and an excellent way to update the experts. By replacing the descriptive text with vivid illustrative videos, the reader will have more time to face the intellectual challenges of these cases instead of trying to build a mental picture of these cases first. Short and well-edited video clips from real clinic stories supplemented with challenging multiple choice questions, provides an excellent way to bridge the gap between overflow of information and short attention span. The chapters are arranged according the symptoms instead of diseases, yet, diseases are listed in the index if one wants to see all videos relevant to a specific disease. Close to 300 video cases* taken directly from a real neuromuscular clinic, illustrating a myriad of disorders and shedding light on their diagnosis, and treatment and giving updates about many of them provides an invaluable approach that should benefit any one who is interested in neuromuscular disorders which comprises more than 50% of presenting disease to general neurologists and even to general practitioners. Some rare diseases are also described, giving an opportunity for the new trainees to see them so that they can diagnosed them if they see them again which may not happen very often. *Due to size limitations, the videos are not included with any eBook version.
Diabetes In Childhood And Adolescence
DOWNLOAD
Author : Francesco Chiarelli
language : en
Publisher: Karger Medical and Scientific Publishers
Release Date : 2005-01-01
Diabetes In Childhood And Adolescence written by Francesco Chiarelli and has been published by Karger Medical and Scientific Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2005-01-01 with Medical categories.
Diabetes mellitus is one of the most frequent chronic diseases affecting children and adolescents. The number of young children being diagnosed with type 1 diabetes is increasing worldwide and an epidemic of type 2 diabetes already at a young age is being
Neuronal And Synaptic Dysfunction In Autism Spectrum Disorder And Intellectual Disability
DOWNLOAD
Author : Carlo Sala
language : en
Publisher: Academic Press
Release Date : 2016-04-30
Neuronal And Synaptic Dysfunction In Autism Spectrum Disorder And Intellectual Disability written by Carlo Sala and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-04-30 with Medical categories.
Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability provides the latest information on Autism spectrum disorders (ASDs), the lifelong neurodevelopmental disorders that present in early childhood and affect how individuals communicate and relate to others and their surroundings. In addition, three quarters of ASD patients also manifest severe intellectual disability. Though certain genes have been implicated, ASDs remain largely a mystery, and research looking into causes and cellular deficits are crucial for better understanding of neurodevelopmental disorders. Despite the prevalence and insidious nature of this disorder, this book remains to be an extensive resource of information and background on the state of current research in the field. The book serves as a reference for this purpose, and discusses the crucial role synaptic activity plays in proper brain function. In addition, the volume discusses the neurodevelopmental synaptopathies and serves as a resource for scientists and clinicians in all biomedical science specialties. This research has been crucial for recent studies that have provided a rationale for the development of pharmacological agents able to counteract functional synaptic anomalies and potentially ameliorate some ASD symptoms. Introduces the genetic and non-genetic causes of autism and associated intellectual disabilities Describes the genes implicated in autistic spectrum disorders and their function Considers major individual genetic causes of autism, Rett syndrome, Fragile X syndrome, and other autism spectrum disorders, as well as their classification as synaptopathies Presents a thorough discussion of the clinical aspects of multiple neurodevelopmental disorders and the experimental models that exist to study their pathophysiology in vitro and in vivo, including animal models and patient-derived stem cell culture
Red Book Atlas Of Pediatric Infectious Diseases
DOWNLOAD
Author : American Academy of Pediatrics
language : en
Publisher:
Release Date : 2007
Red Book Atlas Of Pediatric Infectious Diseases written by American Academy of Pediatrics and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007 with Health & Fitness categories.
Based on key content from Red Book: 2006 Report of the Committee on Infectious Diseases, 27th Edition, the new Red Bookr Atlas is a useful quick reference tool for the clinical diagnosis and treatment of more than 75 of the most commonly seen pediatric infectious diseases. Includes more than 500 full-color images adjacent to concise diagnostic and treatment guidelines. Essential information on each condition is presented in the precise sequence needed in the clinical setting: Clinical manifestations, Etiology, Epidemiology, Incubation period, Diagnostic tests, Treatment
Neurological Psychiatric And Developmental Disorders
DOWNLOAD
Author : Institute of Medicine
language : en
Publisher: National Academies Press
Release Date : 2001-01-01
Neurological Psychiatric And Developmental Disorders written by Institute of Medicine and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2001-01-01 with Medical categories.
Brain disordersâ€"neurological, psychiatric, and developmentalâ€"now affect at least 250 million people in the developing world, and this number is expected to rise as life expectancy increases. Yet public and private health systems in developing countries have paid relatively little attention to brain disorders. The negative attitudes, prejudice, and stigma that often surround many of these disorders have contributed to this neglect. Lacking proper diagnosis and treatment, millions of individual lives are lost to disability and death. Such conditions exact both personal and economic costs on families, communities, and nations. The report describes the causes and risk factors associated with brain disorders. It focuses on six representative brain disorders that are prevalent in developing countries: developmental disabilities, epilepsy, schizophrenia, bipolar disorder, depression, and stroke. The report makes detailed recommendations of ways to reduce the toll exacted by these six disorders. In broader strokes, the report also proposes six major strategies toward reducing the overall burden of brain disorders in the developing world.