10 results on '"Lamperti, C."'
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2. Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency
3. G.O.3 - Dysregulated mitophagy and mitochondrial transport in sensori-motor neuropathy due to “Dominant Optic Atrophy” plus with OPA1 (Optic Atrophy 1) mutations
4. T.P.18: Late-onset Pompe disease: Histopathological, biochemical and clinical assessment before and after ERT
5. P3.5 Oxidative defect in a large cohort of genetically-determined SMA cases
6. G.P.15.09 Unexpected high percentage of asymptomatic subjects carrying the FSHD molecular defect: Which factors contribute to the disease mechanism?
7. G.P.9.06 Infantile inflammatory myopathy presenting as SMARD 1
8. G.P.13.04 Genetic and ultrastructural findings in Selenoprotein N1-related congenital myopathies
9. G.P.7.02 Comprehensive genetic analysis and clinical follow-up findings in 203 DMD patients
10. D.P.3.12 Autosomal recessive Ala93Thr mutation of caveolin-3 gene: A new family
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