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        97-108 of 492 results for 'CDKL5'

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        Pubertal trajectory in females with Rett syndrome: A population-based study

        The aim of this study was to describe pubertal development in a population-based cohort of females with Rett syndrome. ...

        Research

        CAGE-defined promoter regions of the genes implicated in Rett Syndrome

        A comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome ...

        Research

        Maternal Race-Ethnicity, Immigrant Status, Country of Birth, and the Odds of a Child With Autism

        In this study, we used 134 204 mother population to examine the odds of ASD with intellectual disability in children from 1994 to 2005 with these features ...

        Research

        Development of a video-based evaluation tool in Rett syndrome

        This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT). ...

        Research

        Can telehealth increase physical activity in individuals with Rett syndrome? A multicentre randomized controlled trial

        To evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome. ...

        Research

        Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome

        Rett syndrome is associated with severe functional impairments and many comorbidities, each in urgent need of treatments. Mutations in the MECP2 gene were identified as causing Rett syndrome in 1999. Over the past 20 years there has been an abundance of preclinical research with some studies leading to human clinical trials. ...

        Research

        Determinants of quality of life in Rett syndrome: New findings on associations with genotype

        Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome. ...

        Research

        Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study

        Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective. ...

        Research

        Caring for a child with severe intellectual disability in China: The example of Rett syndrome

        Intellectual disability affects more than 1.5% of the population of children in developing countries yet we know little about the daily lives and support... ...

        Research

        Early development and regression in Rett syndrome

        Our findings provide additional insight into the early clinical profile of Rett syndrome. ...

        Research

        Valproate and risk of fracture in Rett syndrome

        This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome. ...

        Research

        Early determinants of fractures in Rett syndrome

        The goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy,... ...

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