Browse study websites

Discover. Prevent. Cure.

Menu Fundraise Donate

    Recommended pages

      Do you mean

        211-220 of 562 results for 'Rare disease'

        Refine search

        Research

        Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study

        CDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials.  ...

        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

        Promoter-level expression clustering identifies time development of transcriptional regulatory cascades initiated by ERBB receptors in breast cancer cells

        The analysis of CAGE (Cap Analysis of Gene Expression) time-courses has been applied to examine the dynamics of enhancer and promoter by sequentially... ...

        Research

        Malignant Melanoma in Children and Adolescents Treated in Pediatric Oncology Centers: An Australian and New Zealand Children’s Oncology Group (ANZCHOG) Study

        Unlike adults, malignant melanoma in children and adolescents is rare. In adult melanoma, significant progress in understanding tumor biology and new treatments, including targeted therapies and immunotherapy have markedly improved overall survival. In sharp contrast, there is a paucity of data on the biology and clinical behavior of pediatric melanoma. We report a national case series of all pediatric and adolescent malignant melanoma presenting to ANZCHOG Childhood Cancer Centers in Australia and New Zealand. ...

        Research

        Transcriptional blood signatures for active and amphotericin B treated visceral leishmaniasis in India

        Amphotericin B provides improved therapy for visceral leishmaniasis (VL) caused by Leishmania donovani ...

        Research

        An in silico pipeline to filter the Toxoplasma gondii proteome for proteins that could traffic to the host cell nucleus and influence host cell epigenetic regulation

        To identify genes with putative epigenetic functions, we developed an in silico pipeline to interrogate the T. gondii proteome of 8313 proteins ...

        Research

        Changes in the clinical and epidemiological features of group A streptococcal bacteraemia in Australia's northern territory

        We aimed to measure the incidence and severity of invasive Group A Strep disease in the NT since 1996. ...

        Research

        Validating the Communication and Symbolic Behavior Scales–Developmental Profile Infant–Toddler Checklist (CSBS–DP ITC) Beyond Infancy in the CDKL5 Deficiency Disorder

        CDKL5 deficiency disorder (CDD) results in early-onset epilepsy and lifelong cognitive and motor impairments. With no validated measure for communication in CDD, this study evaluated the psychometric properties of the Communication and Symbolic Behavior Scales-Developmental Profile Infant Toddler Checklist. ...

        Research

        Bilateral murine tumor models for characterizing the response to immune checkpoint blockade

        This protocol describes bilateral murine tumor models that display a symmetrical yet dichotomous response to immune checkpoint blockade ...

        Research

        Developing metabolomics profiles to differentiate between healthy, preschool wheeze and asthma

        André Graham Ingrid Schultz Hall Laing AS GL IL MBChB, PhD, FRACP BAppSci PhD CRFS FANZSRS FThorSoc FERS BSc PhD Program Head, Respiratory Health RFA ...

        Page 22 of 57