65 results on '"Salpietro, A."'
Search Results
2. CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy
3. A second hotspot for pathogenic exon-skipping variants in CDC45
4. Correction to: CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy
5. Emergence of transmissible SARS-CoV-2 variants with decreased sensitivity to antivirals in immunocompromised patients with persistent infections
6. Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
7. Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation
8. Correction to: Safety and Psychological Outcomes of Tandem t:Slim X2 Insulin Pump with Control-IQ Technology in Children, Adolescents, and Young Adults with Type 1 Diabetes: A Systematic Review
9. BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
10. Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
11. Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development
12. Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
13. Modelling the impact of protein-kinase R allelic variant on HIV biomarkers trajectories by means of latent class mixed models
14. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
15. Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders
16. A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes
17. Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features
18. HIV-1 recombinant forms in immigrants regularly residing in Milan, northern Italy
19. Identification of common genetic markers of paroxysmal neurological disorders using a network analysis approach
20. Targeted Therapy for Severe Asthma in Children and Adolescents: Current and Future Perspectives
21. Clinical and Laboratory Features of 184 Italian Pediatric Patients Affected with Selective IgA Deficiency (SIgAD): a Longitudinal Single-Center Study
22. GSTP1 gene methylation and AHR rs2066853 variant predict resistance to first generation somatostatin analogs in patients with acromegaly
23. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
24. Bacteriotherapy with Streptococcus salivarius 24SMB and Streptococcus oralis 89a nasal spray for treatment of upper respiratory tract infections in children: a pilot study on short-term efficacy
25. Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families
26. Cetirizine use in childhood: an update of a friendly 30-year drug
27. Focus on the cetirizine use in clinical practice: a reappraisal 30 years later
28. Genetic analysis of the human insulin-like 3 gene in pediatric patients with testicular torsion
29. Induction of high-mobility group Box-1 in vitro and in vivo by respiratory syncytial virus
30. Correction to: Expanding the genetic heterogeneity of intellectual disability
31. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
32. DCE and DSC perfusion MRI diagnostic accuracy in the follow-up of primary and metastatic intra-axial brain tumors treated by radiosurgery with cyberknife
33. Expanding the genetic heterogeneity of intellectual disability
34. Efficacy and tolerability of switching to a dual therapy with darunavir/ritonavir plus raltegravir in HIV-infected patients with HIV-1 RNA ≤50 cp/mL
35. The role of puberty and adolescence in the pathobiology of pediatric multiple sclerosis
36. Effects of strontium ranelate on bone mass and bone turnover in women with thalassemia major-related osteoporosis
37. A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study
38. Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without ‘hairy elbows’: expanding the phenotype of Wiedemann–Steiner syndrome
39. High-mobility group box 1 (HMGB1) in childhood: from bench to bedside
40. Stickler syndrome associated with epilepsy: report of three cases
41. Zellweger syndrome and secondary mitochondrial myopathy
42. Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
43. Evaluation of the basal ganglia in neurofibromatosis type 1
44. Immunoglobulin injection for the treatment of multiple oral ulcers in Stevens–Johnson syndrome
45. Natural history of neurofibromatosis type 2 with onset before the age of 1 year
46. First demonstration of the effectiveness of peptide receptor radionuclide therapy (PRRT) with 111In-DTPA-octreotide in a giant PRL-secreting pituitary adenoma resistant to conventional treatment
47. Risk of type 2 diabetes among HIV-infected and healthy subjects in Italy
48. Clinical presentation of trigeminal neuralgia and the rationale of microvascular decompression
49. MRI finding of simultaneous coexistence of growth hormone-secreting pituitary adenoma with intracranial meningioma and carotid artery aneurysms: report of a case
50. Preliminary data suggest that mutations in the CgRP pathway are not involved in human sporadic cryptorchidism
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