Williams-Beuren Syndrome PDF Download
Are you looking for read ebook online? Search for your book and save it on your Kindle device, PC, phones or tablets. Download Williams-Beuren Syndrome PDF full book. Access full book title Williams-Beuren Syndrome by Colleen A. Morris. Download full books in PDF and EPUB format.
Author: Colleen A. Morris
Publisher: JHU Press
ISBN: 9780801882128
Category : Health & Fitness
Languages : en
Pages : 394
Get Book Here
Book Description
Williams-Beuren syndrome (WBS) is a genetic condition characterized by low IQ, cardiovascular malformations, dysmorphic facial features, and a striking pattern of behaviors, weaknesses, and strengths, such as musical and verbal abilities, extraordinary friendliness, empathy, and social grace. Because the typical psychological and cognitive profile is unique, examination of this syndrome sheds light on how the human brain is organized and how different aspects of cognition and behavior arise. Williams-Beuren Syndrome offers concise, comprehensive coverage of WBS research and its clinical implications, including its genetics and molecular biology, neurobiological and behavioral traits, and medical problems and their management. Each chapter emphasizes how research can be applied to clinical practice. The expertise of the volume editors ranges from pioneering research to personal experience: Colleen Morris played a key role in the breakthrough discovery of the missing elastin gene in patients with WBS; Howard Lenhoff is a biologist, an expert on WBS and musical pitch, and the parent of a WBS musical savant; Paul Wang is a pediatrician and cognitive researcher who works in the WBS community. Researchers and clinicians in genetics, pediatrics, and psychiatry/psychology will find in this volume a wealth of current information on WBS, as well as valuable insights into future research possibilities.
Author: Colleen A. Morris
Publisher: JHU Press
ISBN: 9780801882128
Category : Health & Fitness
Languages : en
Pages : 394
Get Book Here
Book Description
Williams-Beuren syndrome (WBS) is a genetic condition characterized by low IQ, cardiovascular malformations, dysmorphic facial features, and a striking pattern of behaviors, weaknesses, and strengths, such as musical and verbal abilities, extraordinary friendliness, empathy, and social grace. Because the typical psychological and cognitive profile is unique, examination of this syndrome sheds light on how the human brain is organized and how different aspects of cognition and behavior arise. Williams-Beuren Syndrome offers concise, comprehensive coverage of WBS research and its clinical implications, including its genetics and molecular biology, neurobiological and behavioral traits, and medical problems and their management. Each chapter emphasizes how research can be applied to clinical practice. The expertise of the volume editors ranges from pioneering research to personal experience: Colleen Morris played a key role in the breakthrough discovery of the missing elastin gene in patients with WBS; Howard Lenhoff is a biologist, an expert on WBS and musical pitch, and the parent of a WBS musical savant; Paul Wang is a pediatrician and cognitive researcher who works in the WBS community. Researchers and clinicians in genetics, pediatrics, and psychiatry/psychology will find in this volume a wealth of current information on WBS, as well as valuable insights into future research possibilities.
Author: Susanne Bartke
Publisher: John Benjamins Publishing
ISBN: 9789027252951
Category : Language Arts & Disciplines
Languages : en
Pages : 412
Get Book Here
Book Description
Williams Syndrome (WS), aka Williams Beuren Syndrome, is a developmental disorder that we have known about for some forty years. The cause for WS was detected only recently: a micro deletion on chromosome 7, more specifically at the region of chromosome 7q11.23. The cognitive and behavioral profile in WS is characterized by a marked discrepancy between verbal and non-verbal skills combined with relatively spared linguistic skills. Recent research has shown considerable progress defining the areas of intactness in linguistic abilities. This volume builds on that research, giving an overview of the psycholinguistic research undertaken and opening up new perspectives and insights through new data and analyses. This book is of interest to researchers of applied cognitive science and to linguists more occupied with theoretical research.
Author: Francesco Chiarelli
Publisher: Karger Medical and Scientific Publishers
ISBN: 3805577664
Category : Medical
Languages : en
Pages : 391
Get Book Here
Book Description
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
Author: John C. Carey
Publisher: John Wiley & Sons
ISBN: 1119432677
Category : Science
Languages : en
Pages : 1104
Get Book Here
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: Helen Tager-Flusberg
Publisher: Psychology Press
ISBN: 9781841690087
Category : Psychology
Languages : en
Pages : 275
Get Book Here
Book Description
This book presents a new perspective on the development of theory of mind based on an integration of empirical research that has been conducted on autism and William's syndrome.
Author: Bruno Bissonnette
Publisher: McGraw-Hill Education / Medical
ISBN:
Category : Medical
Languages : en
Pages : 988
Get Book Here
Book Description
Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.
Author: William Oh
Publisher: Elsevier Health Sciences
ISBN: 0323568777
Category : Medical
Languages : en
Pages : 472
Get Book Here
Book Description
Dr. Richard Polin's Neonatology Questions and Controversies series highlights the most challenging aspects of neonatal care, offering trustworthy guidance on up-to-date diagnostic and treatment options in the field. In each volume, renowned experts address the clinical problems of greatest concern to today's practitioners, helping you handle difficult practice issues and provide optimal, evidence-based care to every patient. - Stay fully up to date in this fast-changing field with Nephrology and Fluid/Electrolyte Physiology, 3rd Edition. - New chapters on Inherited Disorders of Calcium, Phosphate and Magnesium; Fluid and Electrolyte Management of High Risk Infants; Renal Development and Molecular Pathogenesis of Renal Dysplasia; and Prenatal Programming, which describes how prenatal insults can result in hypertension, kidney and cardiovascular disease. - The most current clinical information, including new content on the molecular basis for hereditary tubulopathies and inherited disorders of calcium, phosphate, and magnesium homeostasis. - New information on genetics and pharmacology, neonatal hypertension, diuretic use in the newborn, prenatal programming of adult diseases, lung fluid balance, and much more. - Consistent chapter organization to help you find information quickly and easily. - The most authoritative advice available from world-class neonatologists who share their knowledge of new trends and developments in neonatal care. Purchase each volume individually, or get the entire 7-volume set!Gastroenterology and NutritionHematology, Immunology and GeneticsHemodynamics and CardiologyInfectious Disease and Pharmacology New Volume!Nephrology and Fluid/Electrolyte PhysiologyNeurologyThe Newborn Lung
Author: Brian Hopkins
Publisher:
ISBN: 110710341X
Category : Language Arts & Disciplines
Languages : en
Pages : 993
Get Book Here
Book Description
Updated and expanded to 124 entries, The Cambridge Encyclopedia of Child Development remains the authoritative reference in the field.
Author: Lisa B. Zaoutis
Publisher: Elsevier Health Sciences
ISBN: 0323030041
Category : Medical
Languages : en
Pages : 1382
Get Book Here
Book Description
This new, comprehensive reference not only brings readers the most up-to-date, evidence-based approaches to hospital-based pediatric care, but also covers issues related to staffing a unit; financial, legal, and ethical practices; and how to maintain effective communication between referring providers and consulting staff.
Author:
Publisher: Academic Press
ISBN: 0128033436
Category : Medical
Languages : en
Pages : 386
Get Book Here
Book Description
Zebrafish at the Interface of Development and Disease Research presents the latest on the shared pathways that govern development and contribute to disease. Zebrafish have traditionally been used to study vertebrate development, providing interesting data on the developmental processes and genes that are implicated in disease. This new release in the series contains informative discussions on congenital heart defects in zebrafish, the use of zebrafish in studying kidney development and disease, and muscle development, homeostasis and disease in zebrafish. Each chapter interweaves the study of zebrafish development and its application to the immune system, the kidney, liver, heart and others. - The subject matter is unique - no single volume has pulled together the theme of development and disease with zebrafish as a centerpiece - Leading experts in the field - all of them running zebrafish focused labs for each chapter
