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868 results on '"A. Salpietro"'

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

2. Emergence of transmissible SARS-CoV-2 variants with decreased sensitivity to antivirals in immunocompromised patients with persistent infections

3. Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

4. Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

6. Emergence of transmissible SARS-CoV-2 variants with decreased sensitivity to antivirals in immunocompromised patients with persistent infections

7. Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder

8. Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variantsResearch in context

9. Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

10. Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants

11. Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

12. BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

13. De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features

14. De novo variants in DENND5B cause a neurodevelopmental disorder

15. Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation

16. Human mutations in SLITRK3 implicated in GABAergic synapse development in mice

17. Corrigendum: Neuroimaging in PRUNE1 syndrome: a mini-review of the literature

18. Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

19. Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

20. A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children

21. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

22. Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

23. Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development

25. Neuroimaging features of WOREE syndrome: a mini-review of the literature

26. Neuroimaging in PRUNE1 syndrome: a mini-review of the literature

27. Trends in chronic hepatitis B virus infection in Italy over a 10-year period: Clues from the nationwide PITER and MASTER cohorts toward elimination

28. Remedial Interventions to Address Receptivity to Feedback in Master's-Level Counseling Students

29. Trends in chronic hepatitis B virus infection in Italy over a 10-year period: Clues from the nationwide PITER and MASTER cohorts toward elimination

31. Modelling the impact of protein-kinase R allelic variant on HIV biomarkers trajectories by means of latent class mixed models

32. De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder

33. Hydranencephaly in CENPJ-related Seckel syndrome

35. Brain and eye involvement in McCune-Albright Syndrome: clinical and translational insights

36. ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model

37. Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

39. Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

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

42. 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

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

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

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

46. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

50. 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.

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