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17 results on '"CAMELO, Clara Gontijo"'

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1. Genetic profile of Brazilian patients with LAMA2‐related dystrophies

2. European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17–19, 2023, Barcelona, Spain

3. Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy

5. Hypoglycemia in patients with LAMA2-CMD

6. Muscle ultrasound as a tool for respiratory assessment in patients with LAMA2-MD

7. Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy – a Genotype/Phenotype Correlation

8. Hypoglycemia in Patients With LAMA2-CMD

9. Clinical Manifestation of Nebulin-Associated Nemaline Myopathy

10. The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates

11. Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders

14. Clinical features of collagen VI-related dystrophies: A large Brazilian cohort

17. Nonalcoholic fatty liver disease: a cohort study focusing on treatment response to nutritional counseling

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