160 results on '"Carta, Claudio"'
Search Results
2. A Resource for Guiding Data Stewards to Make European Rare Disease Patient Registries FAIR
3. Building expertise on FAIR through evolving Bring Your Own Data (BYOD) workshops: describing the data, software, and management- focused approaches and their evolution
4. Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators
5. Gain-of-function SOS1 mutations cause a distinctive form of noonan syndrome
6. The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers
7. Resources and tools for rare disease variant interpretation
8. The Italian pilot external quality assessment program for cystic fibrosis sweat test
9. The FAIR Game
10. Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International
11. Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs
12. A Resource for Guiding Data Stewards to Make European Rare Disease Patient Registries FAIR
13. An overlook on the current registries for rare and complex connective tissue diseases and the future scenario of TogethERN ReCONNET
14. BYOD Introduction & FAIR Game
15. Germline missense mutations affecting KRAS isoform B are associated with a severe noonan syndrome phenotype
16. NF1 gene mutations represent the major molecular event underlying neurofibromatosis-noonan syndrome
17. A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1
18. Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors
19. Complete sequencing of an IncH plasmid carrying the blaNDM-1, blaCTX-M-15 and qnrB1 genes
20. Shaping the Future of Rare Diseases after a Global Health Emergency: Organisational Points to Consider
21. Genomic Duplication of PTPN11 Is an Uncommon Cause of Noonan Syndrome
22. Germline BRAF Mutations in Noonan, LEOPARD, and Cardiofaciocutaneous Syndromes: Molecular Diversity and Associated Phenotypic Spectrum
23. Diversity, Parental Germline Origin, and Phenotypic Spectrum of De Novo HRAS Missense Changes in Costello Syndrome
24. Genotyping of an Italian papillary thyroid carcinoma cohort revealed high prevalence of BRAF mutations, absence of RAS mutations and allowed the detection of a new mutation of BRAF oncoprotein (BRAFV599Ins)
25. Somatic PTPN11 mutations in childhood acute myeloid leukaemia
26. Using adverse outcome pathways to identify exogenous risk factors for rare diseases
27. Accentuated response to phenylhydrazine and erythropoietin in mice genetically impaired for their GATA-1 expression (GATA-1low mice)
28. Erythropoietin-Dependent Suppression of the Expression of the β Subunits of the Interleukin-3 Receptor during Erythroid Differentiation
29. The Italian project for surveillance prevention and health care planning of congenital anomalies including Zika virus
30. Recommendations for Improving the Quality of Rare Disease Registries
31. Recommendations for Improving the Quality of Rare Disease Registries
32. In vivo expansion of purified hematopoietic stem cells transplanted in nonablated W/W v mice
33. Overview of a suite of middle-ware services for implementing FAIR data principles
34. The Italian National Centre for Rare Diseases: where research and public health translate into action
35. Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer
36. The Italian pilot external quality assessment program for cystic fibrosis sweat test
37. A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome
38. The Italian External Quality Assessment Program for CF Sweat Chloride Test: Results of the 2015 Round
39. Draft Genome Sequence of Stenotrophomonas maltophilia Strain EPM1, Found in Association with a Culture of the Human Parasite Giardia duodenalis
40. Complete Sequence of the IncT-Type Plasmid pT-OXA-181 Carrying the bla OXA-181 Carbapenemase Gene from Citrobacter freundii
41. Clinical and molecular characterization of 40 patients with Noonan syndrome
42. Klebsiella pneumoniae ST258 Producing KPC-3 Identified in Italy Carries Novel Plasmids and OmpK36/OmpK35 Porin Variants
43. A restricted spectrum of NRAS mutations causes Noonan syndrome
44. GermlineBRAFmutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum
45. Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations
46. Prenatal and neonatal aspects of neurocardiofacio cutaneous syndromes: Genotype–fenotype correlation
47. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
48. Diversity, parental germline origin, and phenotypic spectrum of de novoHRASmissense changes in Costello syndrome
49. Structural and functional effects of disease‐causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP‐2
50. Erratum: Corrigendum: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.