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65 results on '"Salpietro, A."'

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2. CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy

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

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

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

17. Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

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

23. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

30. Correction to: Expanding the genetic heterogeneity of intellectual disability

31. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

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

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

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