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264 results on '"Lochmüller H"'

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3. P76 The Canadian neuromuscular disease registry: a national spinal muscular atrophy registry for real world evidence

5. O09 Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects

6. P192 The open-access treatabolome platform enhances the visibility of treatable and actionable genes in RD-connect's GPAP and other clinical diagnosis support tools

15. P.83 Molecular pathology of human PPP1R21 deficiency

16. DMD - BIOMARKERS

17. NEW GENES AND DISEASES

18. REGISTRIES AND CARE OF NMD

19. REGISTRIES AND CARE OF NMD

22. The Canadian Neuromuscular Disease Registry 2010–2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry

24. SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES

26. SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES

27. REGISTRIES, CARE, QUALITY OF LIFE, MANAGEMENT OF NMD

28. DMD – BIOMARKERS & OUTCOME MEASURES

32. P.380

36. Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease

37. MITOCHONDRIAL DISEASES (Posters)

38. CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

39. CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

40. CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

41. CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

44. Translating discovery science into treatments for patients: observational cohort studies at the MRC Centre for Neuromuscular Diseases

46. Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne

47. Molecular characterization of congenital myasthenic syndromes in Spain

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