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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 med...
A clear and comprehensive account of how genetic abnormalities, neurobiology, and neuropsychology work together to manifest cognitive-behavioral dysfunction. The authors review the current status of research in autosomal disorders that produce cognitive-behavioral dysfunction and syndromal and nonsyndromal disorders that produce mental retardation.
A comprehensive guide to the current practice of pediatric care, this updated edition includes new chapters on complementary and alternative medicine, genetics in primary care, and updated chapters regarding infant and child behavior and development.
What would it be like to see everyone as a friend? Twelve-year-old Eli D’Angelo has a genetic disorder that obliterates social inhibitions, making him irrepressibly friendly, indiscriminately trusting, and unconditionally loving toward everyone he meets. It also makes him enormously vulnerable. Journalist Jennifer Latson follows Eli over three critical years of his life as his mother, Gayle, must decide whether to shield Eli entirely from the world and its dangers or give him the freedom to find his own way and become his own person.
Practical Bioinformatics is specifically designed for biology majors, with a heavy emphasis on the steps required to perform bioinformatics analysis to answer biological questions. It is written for courses that have a practical, hands-on element and contains many exercises (for example, database searches, protein analysis, data interpretation) to
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.
This authoritative research guide includes over 400 original photographs and illustrations of major malformations, minor abnormalities and birth marks. The book is designed for ease of use and includes a full chapter of anthropologic measurements to help practitioners conduct a diagnostic evaluation and determine the degree of variation and malformation.
Handbook concisely presents extensive, clinically relevant information. It is divided into sections: alphabetized table of contents, health maintenance schedules, algorithmic flowcharts for diagnosis and treatment, and summaries for over 900 conditions. Summaries comprise basics, diagnosis, treatment, ongoing care (including complications and patient education), references, readings, codes and clinical pearls.
Comprehensive and readable, Understanding Williams Syndrome: Behavioral Patterns and Interventions is an essential guide for all those professionally, scientifically, or personally involved with this so frequently misunderstood and underserved population--psychologists, psychiatrists, social workers, and other mental health professionals; special educators and vocational counselors; speech-language, physical, and occupational therapists; audiologists; physicians; and parents. In the last 20 years, Williams syndrome has captured the interest of large numbers of scientists and attracted considerable media attention in spite of its rarity (estimated at no more than one in 30,000 births). Those ...
This book is aimed at primary care providers who care for the pediatric age group (general pediatrician, the PCP working with pediatric patients, and family medicine providers) with the goal of covering the endocrine differential diagnosis of common signs and symptoms of possible endocrine disease as well as appropriate initial laboratory evaluation and interpretation. While multiple pediatric endocrine textbooks exist, most of them are heavy in coverage of physiology and rare diseases, with less discussion of practical steps in evaluation and diagnosis. This book distinguishes itself through a very practical approach. The first section is organized by presenting signs and symptoms, the seco...