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291 results on '"Santorelli A"'

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1. Disentangling the veil line for Brazilian biodiversity: An overview from two long-term research programs reveals huge gaps in ecological data reporting

5. Study of cosmogenic activation above ground for the DarkSide-20k experiment

9. Lung ultrasonography underdiagnoses clinically significant pneumothorax.

11. Meta-analysis of epigenome-wide association studies in newborns and children show widespread sex differences in blood DNA methylation

14. Combined generalized and focal epilepsy with reflex features in Adaptor protein complex 4-associated hereditary spastic paraplegias: A cohort observational study.

18. A design for an electromagnetic filter for precision energy measurements at the tritium endpoint

20. Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

27. Long period fiber grating nano-optrode for cancer biomarker detection

28. Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

29. Generation and characterization of CSSi016-A (9938) human pluripotent stem cell line carrying two biallelic variants in MTMR5/SBF1 gene resulting in a case of severe CMT4B3

32. Precision muon reconstruction in Double Chooz

36. The XENON100 dark matter experiment

39. Material screening and selection for XENON100

40. Design and performance of the XENON10 dark matter experiment

41. Understanding the molecular basis of folding cooperativity through a comparative analysis of a multidomain protein and its isolated domains.

42. Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia

47. Clinical and genetic features of a large cohort of Italian SPG4 patients from the D.A.I.S.Y. collaborative network

48. Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population

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