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17 Ιουν 2021 · Williams syndrome (WS) is a relatively rare microdeletion disorder that occurs in as many as 1:7,500 individuals. WS arises due to the mispairing of low-copy DNA repetitive elements at meiosis.
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17 Ιουν 2021 · This PrimeView accompanies the Primer by Pober, Kozel and colleagues and highlights the epidemiology, pathophysiology, diagnosis, screening, management and quality of life of individuals with...
9 Απρ 1999 · Williams syndrome (WS) is characterized by developmental delay, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, cardiovascular disease (supravalvar aortic stenosis, peripheral pulmonary stenosis, hypertension), connective tissue abnormalities, growth deficiency, endocrine abnormalities ...
This review critically examines the research findings which characterize the cognitive, behavioral, and neuroanatomical features of Williams syndrome (WS). This article analyzes 178 published studies in the WS literature covering the following areas: 1) General intelligence, 2) Language skills, 3) V ….
Purpose of review: Since the last review of Williams syndrome in Current Opinion (2001) there have been many advances in knowledge about the cognitive, social and psychological impairments that characterize the disorder. The present review focuses on current research in these areas.
6 Ιουν 2021 · Williams syndrome (WS) is a relatively rare microdeletion disorder that occurs in as many as 1:7,500 individuals. It arises due to mispairing of low-copy DNA repetitive elements at meiosis. Deletion size is similar across most individuals with WS and leads to loss of one copy of 25–27 genes on chromosome 7q11.23.
19 Μαΐ 2008 · This review highlights the need for methodologically sound studies that utilize multiple comparison groups, developmental trajectories, and longitudinal analyses to examine the WS phenotype, as well as those that link brain structure and function to the cognitive and behavioral phenotype of WS individuals. References. Citing Literature.
