135 results on '"Bado, M"'
Search Results
2. Primary adrenal insufficiency in a child with a mitochondrial DNA deletion
3. Severe dystrophinopathy in a patient with congenital hypotonia
4. Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion
5. Performance of Distributed Optical Fiber Sensors (DOFS) and Digital Image Correlation (DIC) in the monitoring of RC structures
6. Mitochondrial function analysis of orbicularis oris muscle specimens obtained from cleft lip patients
7. A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy
8. Diagnostic problems in congenital myotonic dystrophy
9. Mitochondrial myopathy and respiratory failure associated with a mutation in the mitochondrial tRNA glutamic acid gene
10. Clinical and neuroradiological features in two patients with Leigh syndrome and cytochrome c oxidase deficiency
11. Auricolo-condylar syndrome or new syndrome?
12. Reduced aquaporin-4 expression in human muscular dystrophies: a common feature?
13. Sensory-motor polyneuropathy in a patient with mitochondrial myopathy
14. Le malattie mitocondriali. Aggiornamento sugli aspetti biochimici e genetico-molecolari
15. What Details are Needed for Wireless Simulations? - A Study of a Site-Specific Indoor Wireless Model
16. Accuracy-preserving Measurement Collection for Realistic Wireless Simulations
17. Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia
18. A Site-Specific Indoor Link Model for Realistic Wireless Network Simulations
19. Congenital hypomyelination (CH) due to myelin protein zero (P0) Q215X mutation
20. Increased number of caveolae and caveolin-3 over-expression in Duchenne muscular dystrophy
21. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
22. Aspetti istopatologici suggestivi di minicore disease in un bambino con distrofia miotonica congenita
23. [Cardiofacial syndrome. A case report]
24. [Early myoclonic encephalopathy and spinal muscular atrophy type I]
25. [Muscle phosphorylase deficiency in childhood. A case report]
26. [The defect in muscular glucose-6-phosphate dehydrogenase]
27. [Congenital myopathies]
28. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)
29. Long‐term survival in Stuve‐Wiedemann syndrome: A neuro‐myo‐skeletal disorder with manifestations of dysautonomia
30. Abstracts of the 8th Meeting of the Italian Peripheral Nerve Study Group: 65
31. Auriculo-condylar syndrome or new syndrome?
32. Mutation in the CAV3 gene causes partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase
33. Congenital hypomyelination due to myelin protein zero Q215X mutation
34. Disorganization of dystrophin costameric lattice in Becker muscular dystrophy
35. Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria
36. Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria
37. Primary AMP deaminase deficiency in childhood
38. INTERFERON-γ INDUCES A DUAL AND ALTERNATIVE EARLY BIOLOGICAL RESPONSE IN NEUROBLASTOMA CELLS: DIFFERENTIATION AND APOPTOSIS
39. Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency
40. Acute steroid myopathy and neuropathy after status asthmaticus: case report and literature review
41. Long-term survival in Stuve-Wiedemann syndrome: A neuro-myo-skeletal disorder with manifestations of dysautonomia
42. [The myopathy of congenital fiber type disproportion]
43. Unusual phenotype in a patient with infantile onset Danon disease
44. HIGH CURE RATE OF YOUNGER AML PATIENTS WITH FLUDARABINE, CYTARABINE AND IDARUBICINE INDUCTION AND RISK ORIENTED CONSOLIDATION: TEN- YEARS REAL LIFE EXPERIENCE
45. The defect in muscular glucose-6-phosphate dehydrogenase,Il difetto di glucosio-6-fosfato deidrogenasi muscolare
46. Mitochondrial diseases. Update on biochemical and molecular-genetic aspects,Le malattie mitocondriali. Aggiornamento sugli aspetti biochimici e genetico-molecolari
47. Muscle phosphorylase deficiency in childhood. A case report,Il deficit di fosforilasi muscolare nell' età pediatrica. Contributo clinico
48. Clinical and neuroradiological features in two patients with Leigh's syndrome and cytochrome c oxidase deficiency
49. The myopathy of congenital fiber type disproportion,La miopatia con sproporzione congenita tra i tipi di fibre
50. Claes Buer,|| Claes Buer bin ick ghenaemt || Een Vastelauents kint gheboren || Mijn vaeder heft my wighesant || Die waerheyt te verclaren.|| ... || Argumentum libelli.|| Congruo vinctű rapit hic de carcere verű || Rusticus quesitus vincula dira terens.
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