Williams Beuren Syndrome PDF Download
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| Author | : Colleen A. Morris |
| Publisher | : JHU Press |
| Total Pages | : 394 |
| Release | : 2006-03-07 |
| Genre | : Health & Fitness |
| ISBN | : 9780801882128 |
Download Williams-Beuren Syndrome Book in PDF, ePub and Kindle
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 |
| Genre | : Language Arts & Disciplines |
| ISBN | : 9789027252951 |
Download Williams Syndrome Across Languages Book in PDF, ePub and Kindle
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 |
| Genre | : Medical |
| ISBN | : 3805577664 |
Download Diabetes in Childhood and Adolescence Book in PDF, ePub and Kindle
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 | : José Marín-García |
| Publisher | : Academic Press |
| Total Pages | : 935 |
| Release | : 2014-05-09 |
| Genre | : Medical |
| ISBN | : 0124046428 |
Download Post-Genomic Cardiology Book in PDF, ePub and Kindle
In this second edition of Post-Genomic Cardiology, developing and new technologies such as translational genomics, next generation sequencing (NGS), bioinformatics, and systems biology in molecular cardiology are assessed in light of their therapeutic potential. As new methods of mutation screening emerge, both for the genome and for the “epigenome, comprehensive understanding of the many mutations that underlie cardiovascular diseases and adverse drug reactions is within our reach. This book, written by respected cardiologist José Marín-García, features discussion on the Hap-Map: the largest international effort to date aiming to define the differences between our individual genomes. This unique reference further reviews and investigates genome sequences from our evolutionary relatives that could help us decipher the signals of genes, and offers a comprehensive and critical evaluation of regulatory elements from the complicated network of the background DNA. Offers updated discussion of cutting-edge molecular techniques including new genomic sequencing / NGS / Hap-Map / bioinformatics / systems biology approaches Analyzes mitochondria dynamics and their role in cardiac dysfunction, up-to-date analysis of cardio-protection, and cardio-metabolic syndrome Presents recent translational studies, gene therapy, transplantation of stem cells, and pharmacological treatments in CVDs
| Author | : John C. Carey |
| Publisher | : John Wiley & Sons |
| Total Pages | : 1104 |
| Release | : 2021-01-27 |
| Genre | : Science |
| ISBN | : 1119432677 |
Download Cassidy and Allanson's Management of Genetic Syndromes Book in PDF, ePub and Kindle
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 |
| Genre | : Psychology |
| ISBN | : 9781841690087 |
Download Autism and William's Syndrome Book in PDF, ePub and Kindle
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 |
| Genre | : Language Arts & Disciplines |
| ISBN | : 110710341X |
Download The Cambridge Encyclopedia of Child Development Book in PDF, ePub and Kindle
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 |
| Genre | : Medical |
| ISBN | : 3319441159 |
Download Atlas of Acquired Cardiovascular Disease Imaging in Children Book in PDF, ePub and Kindle
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 | : William Oh |
| Publisher | : Elsevier Health Sciences |
| Total Pages | : 400 |
| Release | : 2018-06-25 |
| Genre | : Medical |
| ISBN | : 0323568777 |
Download Nephrology and Fluid/Electrolyte Physiology Book in PDF, ePub and Kindle
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 Nutrition Hematology, Immunology and Genetics Hemodynamics and Cardiology Infectious Disease and Pharmacology New Volume! Nephrology and Fluid/Electrolyte Physiology Neurology The Newborn Lung
| Author | : Elisabeth M. Dykens |
| Publisher | : Brookes Publishing Company |
| Total Pages | : 348 |
| Release | : 2000 |
| Genre | : Education |
| ISBN | : |
Download Genetics and Mental Retardation Syndromes Book in PDF, ePub and Kindle
This book discusses in detail the genetic causes and implications, prevalence, physical characteristics, cognitive profiles, speech and language, medical complications, and behaviors of four major syndromes (Down, Williams, fragile X, and Prader-Willi) an
