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        Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome

        There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors. ...

        Research

        The impact of having a sibling with an intellectual disability:parental perspectives in two disorders

        This study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents. ...

        Research

        Physical and mental health of mothers caring for a child with Rett syndrome

        This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome... ...

        Research

        Does Repeated Influenza Vaccination Constrain Influenza Immune Responses and Protection?

        Christopher Blyth CC MBBS (Hons) DCH FRACP FRCPA PhD Centre Head, Wesfarmers Centre of Vaccines and Infectious Diseases; Co-Head, Infectious Diseases Epidemiology, Wesfarmers Centre of Vaccines and Infectious Diseases, Honorary and NHMRC Emerging ...

        Research

        Implementing Telehealth support to increase physical activity in girls and women with Rett syndrome

        Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08 6319 1763 helen.leonard@telethonkids.org.au Jenny.Downs@telethonkids.org.au Principal Research ...

        Research

        Integrate, Identify, Intervene (Triple I Project): Identifying opportunities for preventing respiratory infections in children through integrating population-based health and laboratory data

        Christopher Hannah Blyth Moore CC HC MBBS (Hons) DCH FRACP FRCPA PhD OAM BSc (Hons) GradDipClinEpi PhD Centre Head, Wesfarmers Centre of Vaccines and Infectious Diseases; Co-Head, Infectious Diseases Epidemiology, Wesfarmers Centre of Vaccines and ...

        Research

        Characterisation of invasive Group B Streptococcus in Western Australian infants over a 15-year period

        Christopher Blyth CC MBBS (Hons) DCH FRACP FRCPA PhD Centre Head, Wesfarmers Centre of Vaccines and Infectious Diseases; Co-Head, Infectious Diseases Epidemiology, Wesfarmers Centre of Vaccines and Infectious Diseases, Honorary and NHMRC Emerging ...

        Research

        The Bone Marrow Microenvironment in B-Cell Development and Malignancy

        B lymphopoiesis is characterized by progressive loss of multipotent potential in hematopoi-etic stem cells, followed by commitment to differentiate into B cells, which mediate the humoral response of the adaptive immune system. ...

        Research

        Child protection involvement of children of mothers with intellectual disability

        Children born to parents with intellectual disability (ID) have been shown as disproportionally represented in child protection services however with limited population-based research. ...

        Research

        LUMOS - Low and Intermediate Grade Glioma Umbrella Study of Molecular Guided TherapieS at relapse: Protocol for a pilot study

        Introduction Grades 2 and 3 gliomas (G2/3 gliomas), when combined, are the second largest group of malignant brain tumours in adults. The outcomes for G2/3 gliomas at progression approach the dismal outcomes for glioblastoma (GBM), yet there is a paucity of trials for Australian patients with relapsed G2/3 gliomas compared with patients with GBM. ...

        Research

        Resourceful and creative methods are necessary to research rare disorders

        Our investigation used the infrastructure of InterRett, established in 2002 with dual aims of encour- aging international collaboration and ascertaining the... ...

        Research

        Bacillus Cereus Bacteremia and Multiple Brain Abscesses During Acute Lymphoblastic Leukemia Induction Therapy

        Bacillus cereus can cause serious infections in immunosuppressed patients. This population may be susceptible to B. cereus pneumonia, bacteremia, cellulitis,... ...

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