Search

Your search keyword '"Stellacci, Emilia"' showing total 195 results

Search Constraints

Start Over You searched for: Author "Stellacci, Emilia" Remove constraint Author: "Stellacci, Emilia"
195 results on '"Stellacci, Emilia"'

Search Results

1. Bridging the educational gaps of health professionals in oncogenomics: results from a pilot e-learning course.

4. Whole Genome Sequencing Solves an Atypical Form of Bardet–Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9.

5. Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.

6. Reversing vemurafenib‐resistance in primary melanoma cells by combined romidepsin and type I IFN treatment through blocking of tumorigenic signals and induction of immunogenic effects

7. Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases

8. Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium

9. Myelin like electrogenic filamentation and Liquid Microbial Fuel Cells Dataset

11. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

12. Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations

14. Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype

15. Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

16. A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype

17. Broadening the phenotypic spectrum of Beta3GalT6‐associated phenotypes

18. WITHDRAWN: Electrogenic and hydrocarbonoclastic biofilm at the oil-water interface as microbial responses to oil spill

23. Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant)

27. Skeletal abnormalities are common features in Aymé-Gripp syndrome

30. Skeletal abnormalities are common features in Aymé‐Gripp syndrome

32. An integrated approach identifies IFN-regulated microRNAs and targeted mRNAs modulated by different HCV replicon clones

35. Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome

36. Mutations impairing GSK3-mediated MAF phosphorylationcausecataract, deafness, intellectual disability, seizures, and a Down syndrome-like facies

37. AberrantHRAStranscript processing underlies a distinctive phenotype within the RASopathy clinical spectrum

38. Congenital immunodeficiency in an individual with Wiedemann–Steiner syndrome due to a novel missense mutation in KMT2A

40. Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

41. Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.

42. Mutations in PAX2 Associate with Adult-Onset FSGS

43. Mutations in ZBTB20 cause Primrose syndrome

44. IκB Kinase ε Targets Interferon Regulatory Factor 1 in Activated T Lymphocytes

46. CS03-5. IRF-1 phosphorylation by I-kappa-B kinase epsilon impairs IFN beta stimulation in activated CD4+ T cells.

48. Human Papillomavirus Type 16 E5 Protein Induces Expression of Beta Interferon through Interferon Regulatory Factor 1 in Human Keratinocytes

50. Critical Role of IRF-8 in Negative Regulation of TLR3 Expression by Src Homology 2 Domain-Containing Protein Tyrosine Phosphatase-2 Activity in Human Myeloid Dendritic Cells

Catalog

Books, media, physical & digital resources