77 results on '"Colombi, M."'
Search Results
2. ν − ν interactions in supernovae environments as a function of density and temperature
3. Monothematic or Traditional Databases?
4. Academic peer tutors and academic biliteracy development in students of Spanish as a heritage language
5. Clinical variability in two Macedonian families with Arterial tortuosity syndrome
6. Book Review: Multiliteracies Pedagogy and Language Learning: Teaching Spanish to Heritage Speakers (2018)
7. Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients
8. A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations
9. High prevalence of radiological vertebral fractures in adult patients with Ehlers–Danlos syndrome
10. From the bedside to the bench and backwards: diagnostic approach and management of Ehlers-Danlos syndrome(s) in Italy
11. Expression of Fibronectin and Plasminogen Activator in Human Cell Hybrids
12. Derepression and Modulation of Plasminogen Activator in Human Cell Hybrids and Their Segregants
13. Connective tissue anomalies in patients with spontaneous cervical artery dissection
14. Compound heterozygosity of the novel −186C>T mutation in theCOL7A1promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa
15. A novel variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy and hearing loss - a differential diagnosis in floppy infant syndrome
16. Molecular autopsy in traumatic death. A case report
17. Mutations in TGFBR2 gene cause spontaneous cervical artery dissection
18. Genome-wide shRNA screen reveals increased mitochondrial dependence upon mTORC2 addiction
19. Branch point and donor splice-siteCOL7A1mutations in mild recessive dystrophic epidermolysis bullosa
20. The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682+1G>A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa
21. A systemic functional approach to teaching Spanish for heritage speakers in the United States
22. Comparison of Two Mechanics-Based Methods for Simplified Structural Analysis in Vulnerability Assessment
23. Identification of a novel TGFBR1 mutation in a Loeys–Dietz syndrome type II patient with vascular Ehlers–Danlos syndrome phenotype
24. De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma
25. ISCHEMIC STROKE IN AN ADOLESCENT WITH ARTERIAL TORTUOSITY SYNDROME
26. P054 Anti-erythroblast autoimmunity in early MDS
27. Anti-erythroblast autoimmunity in early myelodysplastic syndromes
28. Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B
29. Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization
30. Isolation and characterization of dominant and recessive IL-3-independent hematopoietic transformants
31. Enfoques Socioculturales hacia el Desarrollo de una Alfabetización Avanzada
32. Diagnostic role and prognostic significance of a simplified immunophenotypic classification of mature B cell chronic lymphoid leukemias
33. Different phenotypes in recessive dystrophic epidermolysis bullosa patients sharing the same mutation in compound heterozygosity with two novel mutations in the type VII collagen gene
34. Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient
35. Dexamethasone-induced healing of chronic leg ulcers in a patient with defective organization of the extracellular matrix of fibronectin
36. Treatment and prognosis in a series of primary extranodal lymphomas of the ocular adnexa
37. Low-grade MALT lymphoma involving multiple mucosal sites and bone marrow
38. Molecular characterization of two patients affected by the hallopeau-siemens variant of recessive epidemolysis bullosa dystrophica
39. Allelic deletion at chromosome 11p13 defines a tumour suppressor region between the catalase gene and D11S935 in human non-small cell lung carcinoma.
40. Poor prognosis in non‐villous splenic marginal zone cell lymphoma is associated with p53 mutations
41. Text Organization by Bilingual Writers
42. p53 protein accumulation and p53 gene alterations (RFLP, VNTR and p53 gene mutations) in non-invasive versus invasive human transitional bladder cancer
43. Multilobated B cell lymphoma (Pinkus variant) with isolated muscular localization in a patient with systemic sclerosis: a case report
44. Role of different hematologic variables in defining the risk of malignant transformation in monoclonal gammopathy
45. Frequent TP53 gene alterations (mutation, allelic loss, nuclear accumulation) in primary non-small cell lung Cancer
46. Reviews
47. Uncommon clinical presentation of a lymphocytic lymphoma of intermediate differentiation in a patient with systemic sclerosis
48. Loss of heterozygosity on chromosome 11p13 in primary bladder carcinoma
49. QUALITY ASSURANCE IN DRUG INFORMATION CENTRES
50. Essential thrombocythemia and non-Hodgkin lymphoma: A case report
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