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3. Auto-antibodies against type I IFNs in patients with life-threatening COVID-19

4. Autoantibodies against type I IFNs in patients with life-threatening COVID-19

5. Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

9. A Combined Metabolic–Genetic Approach to Early-Onset Epileptic Encephalopathies: Results from a Swiss Study Cohort

15. Pyridoxine responsiveness in novel mutations of the PNPO gene

19. BIOLOGY

20. Epigenetic silencing of miRNA-9 is associated with HES1 oncogenic activity and poor prognosis of medulloblastoma.

22. Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.

23. Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.

24. The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies.

25. Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy.

26. Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome.

27. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

28. DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.

29. What affects length of hospital stay? A case study from Malta.

30. Closed-Loop Acoustic Stimulation During Sleep in Children With Epilepsy: A Hypothesis-Driven Novel Approach to Interact With Spike-Wave Activity and Pilot Data Assessing Feasibility.

31. The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.

32. Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.

33. Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.

34. Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms.

35. Variables affecting hospital length of stay: a scoping review.

36. Contrast induced spinal myoclonus after percutaneous coronary intervention.

37. Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency.

38. The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.

39. N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.

40. Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

41. Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.

42. Ex vivo determination of bone tissue strains for an in vivo mouse tibial loading model.

43. Control of data quality for population-based cancer survival analysis.

44. Fatal outcome of rhino-orbital-cerebral mucormycosis due to bilateral internal carotid occlusion in a child after hematopoietic stem cell transplantation.

45. Pediatric papillary tumors of the pineal region: to observe or to treat following gross total resection?

46. MicroRNA-21 suppression impedes medulloblastoma cell migration.

47. KMT2B -Related Dystonia

48. DNAJC6 Parkinson Disease

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