5 hasil untuk "Jonathan Rodgers"
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Artikel Jurnal
ABCA3 Surfactant‐Related Gene Variant Associated Interstitial Lung Disease in Adults: A Case Series and Review of the Literature
ABSTRACT Surfactant‐related gene (SRG) variants are a rare but increasingly recognised cause of interstitial lung disease (ILD) in adults. Lung disease due to pathogenic variants in the adenosine triphosphate (ATP) binding cassette subfamily A member 3 (ABCA3) gene has been extensively described…
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Artikel Jurnal
Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral…
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Artikel Jurnal
Telomere biology disorder presenting acutely with pulmonary fibrosis and hepatopulmonary syndrome in a young adult male
Abstract A 33‐year‐old man presented with acute dyspnoea and profound hypoxaemia, and had clubbing, greying of hair, orthodeoxia and fine inspiratory crackles. CT chest showed established pulmonary fibrosis in a usual interstitial pneumonia pattern. Additional investigations revealed a small patent…
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Artikel Jurnal
Building genetic healthcare together: an Australian co-production three-phase mixed-methods research protocol with people with intellectual disability
Introduction People with intellectual disability face significant barriers to accessing genetic healthcare, including during appointments. Many adults with intellectual disability are denied opportunities to discuss genetic testing that could improve their health and well-being. This study follows…
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Artikel Jurnal Teks lengkap
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
Importance: Widespread adoption of rapid genomic testing in pediatric critical care requires robust clinical and laboratory pathways that provide equitable and consistent service across health care systems. Objective: To prospectively evaluate the performance of a multicenter network for…