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Your search keyword '"Sampaio, Hugo A."' showing total 8 results

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8 results on '"Sampaio, Hugo A."'

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1. DHDDS and NUS1: A converging pathway and common phenotype

2. Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales

3. Urgent computed tomography angiography in paediatric stroke

4. Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy

6. Congenital Titinopathy: Comprehensive characterization and pathogenic insights

7. Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness

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