159 results on '"Saade D"'
Search Results
2. P444 Ophthalmologic findings following intrathecal AAV9 mediated gene transfer for Giant Axonal Neuropathy
3. O16 New FDX2-loss of function phenotype presenting with blindness and myopathy with potential responsiveness to Co-enzyme Q10 analogs
4. P285 Bi-allelic variants in HMGCR cause limb girdle muscular dystrophy and further implicate the mevalonate pathway in muscle disease
5. P445 Electrophysiologic and histologic findings following intrathecal AAV9 mediated gene transfer for giant axonal neuropathy
6. P.33 Muscle ultrasound use in the initial diagnosis of childhood onset neuropathy and neuronopathy
7. O.10 First-in-human intrathecal gene transfer study for giant axonal neuropathy: Preliminary review of long-term efficacy and safety
8. O.06 Long term outcomes for X-Linked myotubular Myopathy (XLMTM) with gene replacement therapy, resamirigene bilparvovec: Preliminary results from ASPIRO
9. United Arab Emirates National Newborn Screening Programme:an evaluation 1998-2000
10. Improved Respiratory Outcomes for X-Linked Myotubular Myopathy (XLMTM) with Gene Replacement Therapy, Resamirigene Bilparvovec (ASPIRO): Preliminary Results from ASPIRO, a Phase 1/2/3 Study
11. ASPIRO Gene Therapy Trial in X-Linked Myotubular Myopathy (XLMTM): Update on Preliminary Efficacy and Safety Findings
12. OUTCOME MEASURES
13. COLLAGEN RELATED MUSCLE DISEASES
14. CLINICAL TRIAL HIGHLIGHTS
15. COLLAGEN RELATED MUSCLE DISEASES
16. United Arab Emirates National Newborn Screening Programme:an evaluation 1998-2000
17. HEREDITARY NEUROPATHIES & ALS
18. CONGENITAL MYOPATHIES 1 – NEMALINE
19. HEREDITARY NEUROPATHIES & ALS
20. An ultrafast system for signaling mechanical pain in human skin
21. Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
22. Improving SMIL with NCM Facilities
23. DISTAL MYOPATHIES
24. CONGENITAL MUSCULAR DYSTROPHY: LAMA2
25. NEW GENES AND DISEASES
26. O.9Dominant Collagen XII-related myopathy with a distal myopathy phenotype, amenable to treatment with allele-specific knockdown
27. P.382Recessive COL12A1 loss of function EDS/myopathy overlap syndrome: confirmation and expansion of a consistently severe phenotype
28. OUTCOME MEASURES: EP.326 Serum neurofilament light chain analysis in giant axonal neuropathy
29. CLINICAL TRIAL HIGHLIGHTS: O.1 ASPIRO gene therapy trial in X-linked myotubular myopathy (XLMTM): update on preliminary efficacy and safety findings
30. Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011
31. NEW THERAPEUTIC APPROACHES AND THEIR READOUT
32. CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES
33. CMT AND NEUROGENIC DISEASE
34. CONGENITAL MYOPATHIES: GENERAL AND RYR1
35. NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY
36. CONGENITAL MUSCULAR DYSTROPHIES
37. Monomodal Image Registration by Tensor Analysis: Going Beyond the Brightness Constancy Assumption
38. Iterated Local Search for RGB Image Steganography
39. HEREDITARY NEUROPATHIES & ALS: P.107 Review of ophthalmologic findings following intrathecal gene transfer for giant axonal neuropathy
40. HEREDITARY NEUROPATHIES & ALS: P.108 First-in-human intrathecal gene transfer study for giant axonal neuropathy: Three-year interim evaluation of safety and efficacy
41. Congenital duodenocolic fistula in a dog
42. MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.
43. DISTAL MYOPATHIES: P.244SYNE1 cerebellar ataxia "plus" syndrome: characterizing the skeletal muscle and cardiopulmonary phenotype
44. Clinical summary of eight unrelated individuals with GMPPB mutations
45. Intrathecal Gene Therapy for Giant Axonal Neuropathy.
46. Prevalence of iodine deficiency disorders in the United Arab Emirates measured by raised TSH levels
47. A New Database for Breast Research with Infrared Image
48. Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011
49. MeshAdmin: An integrated platform for wireless mesh network management
50. G.P.276 - Clinical summary of eight unrelated individuals with GMPPB mutations
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