851 results on '"Renieri, Alessandra"'
Search Results
2. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
3. Orbital/ocular inflammatory involvement in VEXAS syndrome: Data from the international AIDA network VEXAS registry
4. Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder
5. Author Correction: Assessment of haptoglobin alleles in autism spectrum disorders
6. Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males
7. The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
8. VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases
9. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
10. Correction: The role of the genetic counsellor in the multidisciplinary team: the perception of geneticists in Europe
11. Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot
12. Correction: The 2019 and 2021 International workshops on Alport syndrome
13. Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells
14. Mapping the human genetic architecture of COVID-19
15. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
16. CYP19A1 mediates severe SARS-CoV-2 disease outcome in males
17. YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse
18. The role of the Genetic Counsellor in the multidisciplinary team: the perception of geneticists in Europe
19. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
20. Educational Robotics for Inclusive Design
21. 'Experience' on the Screen. Training Pre-service Teachers on Educational Robotics
22. Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma
23. Host genetic basis of COVID-19: from methodologies to genes
24. Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay
25. A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A
26. The 2019 and 2021 International Workshops on Alport Syndrome
27. A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis
28. Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
29. Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients
30. Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity
31. Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
32. An explainable model of host genetic interactions linked to COVID-19 severity
33. A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death
34. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria(European Journal of Human Genetics, (2021), 29, 8, (1186-1197), 10.1038/s41431-021-00858-1)
35. Fostering Students’ Problem-Solving Skills Through Educational Robotics in Primary School
36. Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
37. FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
38. Crossing Boundaries: Documentation of a Teacher Training Course on Design, Robotics and Coding
39. “Experience” on the Screen. Training Pre-service Teachers on Educational Robotics
40. Noninvasive Genetic Testing: Adhesive Patch-Based Skin Biopsy and Buccal Swab
41. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
42. MET somatic activating mutations are responsible for lymphovenous malformation and can be identified using cell-free DNA next generation sequencing liquid biopsy
43. CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype
44. The phenomenon of multidrug resistance in glioblastomas
45. A new mutation in DNM2 gene in a large Italian family
46. COVID-19: a challenge and an opportunity
47. Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features.
48. MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype
49. Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/− patients and in foxg1+/− mice
50. Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe
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