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        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

        Seizures in Rett syndrome: an overview from a one-year calendar study

        Information on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a... ...

        Research

        The effects of maternal smoking on early mucosal immunity and sensitization at 12 months of age

        In this study, we examined the effects of maternal smoking as a major adverse exposure in early life, on mucosal immune function and allergen sensitization... ...

        Research

        Early progressive encephalopathy in boys and MECP2 mutations

        MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy... ...

        Research

        NTNG1 mutations are a rare cause of Rett syndrome

        A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT). ...

        Research

        Screening for retinopathy of prematurity to prevent blindness (RETCAM)

        Retinopathy of prematurity (ROP) is an eye disease that can occur in premature babies. It causes abnormal blood vessels to grow in the retina, and ...

        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

        The association between perinatal testosterone concentration and early vocabulary development

        Prenatal exposure to testosterone is known to affect fetal brain maturation and later neurocognitive function. ...

        Research

        Acute hyperglycaemia does not alter nitric oxide-mediated microvascular function in the skin of adolescents with type 1 diabetes

        We assessed the impact of an acute bout of hyperglycaemia on nitric oxide (NO)-mediated microvascular function in the skin of adolescents with type 1... ...

        Research

        Consensus statement for inert gas washout measurement using multiple- and single- breath tests

        Inert gas washout tests, performed using the single- or multiple-breath washout technique, were first described over 60 years ago. ...

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