128 results on '"Biancalana V"'
Search Results
2. New mutations identified in a case of Glycogenin-1 deficiency
3. Inertial analysis of acceleration, deceleration, and angular speed in the technical of the front tucked somersault in female artistic gymnastics.
4. An integrated modelling methodology for estimating the prevalence of centronuclear myopathy
5. Clinical massively parallel sequencing for the diagnosis of myopathies
6. Objective evaluation of clinical actionability for genes involved in myopathies: 63 genes with a medical value for patient care
7. CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES
8. Studying and applying magnetic dressing with a Bell and Bloom magnetometer
9. Le ragioni invalicabili?
10. Progetto di vita e progetto per vivere
11. P.114Clinical, histological, and genetic characterization of PYROXD1-related myopathy
12. Effects of metabolic training in type 2 diabetes patients
13. EDUCAZIONE MOTORIA E MIGLIORAMENTO DELLA DISPONIBILITÀ ATTENTIVA IN ETÀ EVOLUTIVA
14. Effect of hyaluronic acid local injections on Achilles tendinitis: an observational study on tendon viscoelastic properties in recreational runners
15. HbA1c: miglior controllo con meno tempo di esercizio fisico nei diabetici over 65
16. METABOLIC MYOPATHIES I
17. CONGENITAL MYOPATHIES (CNM)
18. A novel mutation in HSPB8 causes dominant adult-onset axial and distal myopathy
19. Recessive myopalladin mutations cause congenital cap myopathy with unusual rods
20. New myotubular myopathy classification
21. X-Linked myotubular myopathy (XLMTM): phenotypic variability
22. Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
23. A national French consensus on gene lists for NGS-based diagnosis of myopathies
24. Longitudinal data of patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study
25. Integrated analysis of the large-scale sequencing project “Myocapture” to identify novel genes for myopathies
26. Clinical orphan patient pool methodology estimates current patient pool in centronuclear myopathy
27. Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1
28. Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
29. X-linked myotubular myopathy in ambulant patients
30. Baseline data from patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study
31. Atomic orientation driven by broadly-frequency-modulated radiation: Theory and experiment
32. CONGENITAL MYOPATHIES (CNM): P.147Novel SPEG mutations in congenital myopathy without centralized nuclei
33. CONGENITAL MYOPATHIES (CNM): P.140Clinical changes over time in a European and North-american cohort of patients with X-linked myotubular myopathy
34. Forty years after the first dark resonance experiment: an overview of the COSMA project results
35. Natural history and functional status of patients with myotubular myopathy enrolled in a prospective and longitudinal study
36. Forty years after the first dark resonance experiment: an overview of the COSMA project results.
37. P.330 - A national French consensus on gene lists for NGS-based diagnosis of myopathies
38. P.327 - Integrated analysis of the large-scale sequencing project “Myocapture” to identify novel genes for myopathies
39. P.291 - Recessive myopalladin mutations cause congenital cap myopathy with unusual rods
40. NG.O.9 - Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
41. P.250 - Longitudinal data of patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study
42. P.253 - Clinical orphan patient pool methodology estimates current patient pool in centronuclear myopathy
43. P.249 - X-Linked myotubular myopathy (XLMTM): phenotypic variability
44. P.247 - New myotubular myopathy classification
45. P.74 - A novel mutation in HSPB8 causes dominant adult-onset axial and distal myopathy
46. P.92 - Baseline data from patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study
47. P.91 - X-linked myotubular myopathy in ambulant patients
48. G.P.296 - Natural history and functional status of patients with myotubular myopathy enrolled in a prospective and longitudinal study
49. Forty years after the first dark resonance experiment: an overview of the COSMA project results
50. 255P Relevance of muscle biopsies in the neonatal period: a 52-year retrospective study in the gene-sequencing era.
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