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337 results on '"A. Salpietro"'

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1. Risk for non-AIDS-defining and AIDS-defining cancer of early versus delayed initiation of antiretroviral therapy

2. Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome

3. Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco

4. Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders

5. De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype

6. Clinical features and comorbidity pattern of HCV infected migrants compared to native patients in care in Italy: A real-life evaluation of the PITER cohort

7. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

8. Temporal-parietal-occipital epilepsy in GEFS+ associated with SCN1A mutation

9. A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes

10. Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

11. Human Immunodeficiency Virus Continuum of Care in 11 European Union Countries at the End of 2016 Overall and by Key Population: Have We Made Progress?

12. High rates of sustained virological response despite premature discontinuation of directly acting antivirals in HCV-infected patients treated in a real-life setting

13. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

14. Distinct gene-set burden patterns underlie common generalized and focal epilepsies

15. Is physician assessment of alcohol consumption useful in predicting risk of severe liver disease among people with HIV and HIV/HCV co-infection?

16. Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann-Steiner syndrome

17. Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review

18. Identification of common genetic markers of paroxysmal neurological disorders using a network analysis approach

19. Clinical and Laboratory Features of 184 Italian Pediatric Patients Affected with Selective IgA Deficiency (SIgAD): a Longitudinal Single-Center Study

20. Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report

21. An Open Retrospective Study of a Standardized Cannabidiol Based-Oil in Treatment-Resistant Epilepsy

23. Impact of PNPLA3 variants on liver histology of 168 patients with HIV infection and chronic hepatitis C

24. Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study

25. Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum

26. Incidence and risk factors for liver enzyme elevation among naive HIV-1-infected patients receiving ART in the ICONA cohort

27. Economic Consequences of Investing in Anti-HCV Antiviral Treatment from the Italian NHS Perspective: A Real-World-Based Analysis of PITER Data

28. Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event?

29. Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

30. Recurrent respiratory infections between immunity and atopy

31. Focus on the cetirizine use in clinical practice: a reappraisal 30 years later

32. Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy

33. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

34. Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy

35. L1CAM variants cause two distinct imaging phenotypes on fetal MRI

36. Prominent and regressive brain developmental disorders associated with nance-horan syndrome

37. Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders

38. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

39. Complex Neurological Phenotype Associated with a De Novo DHDDS Mutation in a Boy with Intellectual Disability, Refractory Epilepsy, and Movement Disorder

40. Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

41. Human patient SFPQ homozygous mutation is found deleterious for brain and motor development in a zebrafish model

42. Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients

43. Pediatric stroke: current diagnostic and management challenges

44. A Review of Copy Number Variants in Inherited Neuropathies

45. Different concentration of human cord blood HMGB1 according to delivery and labour: A pilot study

46. A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography – case study

47. Lack of clear and univocal genotype-phenotype correlation in familial Mediterranean fever patients: A systematic review

48. The role of puberty and adolescence in the pathobiology of pediatric multiple sclerosis

49. In vivo evidence that the cannabinoid receptor 2–63 RR variant is associated with the acquisition and/or expansion of HIV infection

50. Triglyceride/HDL ratio and its impact on the risk of diabetes mellitus development during ART

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