17 results on '"CAMELO, Clara Gontijo"'
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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
4. Central nervous system involvement and the genotype-phenotype correlation in CMD-LAMA2
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
12. Severe progressive brain involvement in a patient with TRMT10C mutation
13. Child Neurology: A Case of FHL1-Related Disease Presenting as Inflammatory Myopathy
14. Clinical features of collagen VI-related dystrophies: A large Brazilian cohort
15. Facial myokymia in inherited peripheral nerve hyperexcitability syndrome
16. Unilateral abdominal protrusion as the main diagnostic sign of facioscapulohumeral dystrophy
17. Nonalcoholic fatty liver disease: a cohort study focusing on treatment response to nutritional counseling
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