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33 results on '"Tirupathi, Sandya"'

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1. Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom

2. Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

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4. Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

5. Contributors

9. Risdiplam for the treatment of adults with spinal muscular atrophy: Experience of the Northern Ireland neuromuscular service.

12. Prediagnosis pathway benchmarking audit in patients with Duchenne muscular dystrophy

13. Making sense of missense variants in TTN-related congenital myopathies

14. Making sense of missense variants in TTN-related congenital myopathies

15. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

17. Making sense of missense variants in TTN-related congenital myopathies

18. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

19. Prediagnosis pathway benchmarking audit in patients with Duchenne muscular dystrophy.

23. How to use: creatine kinase.

24. Interventions to prevent steroid-induced osteoporosis and osteoporotic fractures in Duchenne muscular dystrophy (Review)

25. Interventions to prevent steroid-induced osteoporosis and osteoporotic fractures in Duchenne muscular dystrophy (Protocol)

27. Dystrophin Exon 29 Nonsense Mutations Cause a Variably Mild Phenotype.

28. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

31. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

32. Clinical spectrum of 4H leukodystrophy caused by POLR3Aand POLR3Bmutations

33. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.