DISRUPTION OF PHF21A CAUSES SYNDROMIC INTELLECTUAL DISABILITY WITH CRANIOFACIAL ANOMALIES, EPILEPSY, HYPOTONIA, AND NEUROBEHAVIORAL PROBLEMS INCLUDING AUTISM

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

Abstract Background PHF21A has been associated with intellectual disability and craniofacial anomalies based on its deletion in the Potocki-Shaffer syndrome region at 11p11.2 and its disruption in three patients with balanced translocations.In addition, three patients with de novo truncating mutations in PHF21A were reported recently.Here, we analy

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Mobile Application Search: A QoS-Aware and Tag-Based Approach

Trinket Box The availability of enormous numbers of mobile applications (apps) is driving demand for the means to search for, recommend, and manage apps.Existing search engines provide basic search functionalities that enable users to find apps by issuing query keywords; however, the ranking of search results does not always satisfy the expectation

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Well-being Therapy: Review of Studies Evaluating the Effectiveness and Prospects for the Development of a Positive Psychotherapeutic Strategy

Well-being therapy was developed in the 1990s on the basis of a model of psychological well-being describing the components of positive psychological functioning, and then Ski de fond - Accessoires - Fixations - Classic revised within the framework of the concept of euthymia, defending the idea of a balance of positive and negative psychological ch

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