Williams Beuren Syndrome
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Author |
: Colleen A. Morris |
Publisher |
: JHU Press |
Total Pages |
: 394 |
Release |
: 2006-03-07 |
ISBN-10 |
: 0801882125 |
ISBN-13 |
: 9780801882128 |
Rating |
: 4/5 (25 Downloads) |
Synopsis Williams-Beuren Syndrome by : Colleen A. Morris
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 |
Total Pages |
: 412 |
Release |
: 2004-01-01 |
ISBN-10 |
: 9027252955 |
ISBN-13 |
: 9789027252951 |
Rating |
: 4/5 (55 Downloads) |
Synopsis Williams Syndrome Across Languages by : Susanne Bartke
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 |
Total Pages |
: 391 |
Release |
: 2005-01-01 |
ISBN-10 |
: 9783805577663 |
ISBN-13 |
: 3805577664 |
Rating |
: 4/5 (63 Downloads) |
Synopsis Diabetes in Childhood and Adolescence by : Francesco Chiarelli
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 |
Total Pages |
: 1104 |
Release |
: 2021-01-27 |
ISBN-10 |
: 9781119432678 |
ISBN-13 |
: 1119432677 |
Rating |
: 4/5 (78 Downloads) |
Synopsis Cassidy and Allanson's Management of Genetic Syndromes by : John C. Carey
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 |
Total Pages |
: 275 |
Release |
: 2015-10-01 |
ISBN-10 |
: 1841690082 |
ISBN-13 |
: 9781841690087 |
Rating |
: 4/5 (82 Downloads) |
Synopsis Autism and William's Syndrome by : Helen Tager-Flusberg
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 |
: Brian Hopkins |
Publisher |
: |
Total Pages |
: 993 |
Release |
: 2017-10-19 |
ISBN-10 |
: 9781107103412 |
ISBN-13 |
: 110710341X |
Rating |
: 4/5 (12 Downloads) |
Synopsis The Cambridge Encyclopedia of Child Development by : Brian Hopkins
Updated and expanded to 124 entries, The Cambridge Encyclopedia of Child Development remains the authoritative reference in the field.
Author |
: Randy Ray Richardson, MD |
Publisher |
: Springer |
Total Pages |
: 154 |
Release |
: 2016-10-13 |
ISBN-10 |
: 9783319441153 |
ISBN-13 |
: 3319441159 |
Rating |
: 4/5 (53 Downloads) |
Synopsis Atlas of Acquired Cardiovascular Disease Imaging in Children by : Randy Ray Richardson, MD
This atlas is a concise visual guide to the imaging of acquired heart disease in infants, children, and adolescents. Imaging plays an ever-increasing vital role in diagnosis, preoperative planning, and postoperative management for children with these disorders. The book reviews techniques for lowering radiation, discusses protocols for imaging in children, and provides recommendations for the most appropriate studies that decrease the time and cost of imaging these patients. Focusing on functional and anatomic imaging with an emphasis on three-dimensional color-coded models derived from CT and MR scans, this book promotes understanding of cardiovascular disorders in children, including infectious, neoplastic, and metabolic diseases. Atlas of Acquired Cardiovascular Disease Imaging in Children is a valuable resource through which cardiologists, radiologists, pediatric cardiothoracic surgeons, and residents can improve the quality and treatment of pediatric and adolescent patients with acquired heart disease.
Author |
: Gregory O'Brien |
Publisher |
: Cambridge University Press |
Total Pages |
: 236 |
Release |
: 1995 |
ISBN-10 |
: 1898683069 |
ISBN-13 |
: 9781898683063 |
Rating |
: 4/5 (69 Downloads) |
Synopsis Behavioural Phenotypes by : Gregory O'Brien
A timely distillation of current thinking on the presentation of behavioural disorders and their origins.
Author |
: William Oh |
Publisher |
: Elsevier Health Sciences |
Total Pages |
: 472 |
Release |
: 2018-06-25 |
ISBN-10 |
: 9780323568777 |
ISBN-13 |
: 0323568777 |
Rating |
: 4/5 (77 Downloads) |
Synopsis Nephrology and Fluid/Electrolyte Physiology by : William Oh
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 |
: Clive D. L. Wynne |
Publisher |
: Houghton Mifflin |
Total Pages |
: 277 |
Release |
: 2019 |
ISBN-10 |
: 9781328543967 |
ISBN-13 |
: 132854396X |
Rating |
: 4/5 (67 Downloads) |
Synopsis Dog Is Love by : Clive D. L. Wynne
A pioneering canine behaviorist draws on cutting-edge research to show that a single, simple trait--the capacity to love--is what makes dogs such perfect companions for humans, and to explain how we can better reciprocate their affection.