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Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.
Joseph Rosemary Jonathan Kado Wyber Carapetis AM PhD MBChB MPH FRACGP PhD AM MBBS FRACP FAFPHM PhD FAHMS Senior Research Fellow Senior Research
Children with CP and intellectual disability, particularly from minority backgrounds, were at higher risk of being admitted to hospital after the first year of life
Significant variation in practice, particularly for patients with a severe disease phenotype and antibiotic-resistant profile
An increased prevalence of autism spectrum disorder (ASD) among children of immigrant backgrounds has been observed
In this study, we investigate the in vivo synergy between romidepsin and cytarabine
Our findings suggest that some opportunities do exist for clinicians to help optimise parental well-being
This review provides the first comprehensive overview of the potential role for cannabis based preparations in the treatment of CDKL5 Deficiency Disorder
This study aimed to identify the quality of life domains important for individuals with CDKL5 deficiency disorder
Increased risk of autism spectrum disorder with intellectual disability and cerebral palsy with intellectual disability for mothers of some foreign-born groups