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91 results on '"A. Salpietro"'

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1. Epilepsy Course and Developmental Trajectories in STXBP1-DEE

2. Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants

3. MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism

8. A loss‐of‐function homozygous mutation in DDX59 implicates a conserved DEAD‐box RNA helicase in nervous system development and function

10. Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

18. A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity

21. Immortal time bias: authors’ reply

23. Low-frequency drug-resistant HIV-1 and risk of virological failure to first-line NNRTI-based ART: a multicohort European case–control study using centralized ultrasensitive 454 pyrosequencing

26. Evolution of HIV-1 tropism at quasispecies level after 5 years of combination antiretroviral therapy in patients always suppressed or experiencing episodes of virological failure

34. Longitudinal analysis of HIV-1 coreceptor tropism by single and triplicate HIV-1 RNA and DNA sequencing in patients undergoing successful first-line antiretroviral therapy

37. Spinal Neurofibromatosis with Central Nervous System Involvement in a Set of Twin Girls and a Boy: Further Expansion of the Phenotype

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