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276 results on '"Giurgea, Irina"'

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3. NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations

4. Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria

6. Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

7. SHH medulloblastoma in a young adult with a TCF4 germline pathogenic variation

10. A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation

12. De Novo Gain‐Of‐Function Variations inLYNAssociated With an Early‐Onset Systemic Autoinflammatory Disorder

13. RNF213-associated urticarial lesions with hypercytokinemia

14. De novo gain‐of‐function variations in LYN lead to an early onset systemic autoinflammatory disorder

15. The recurrentTCF4missense variant p.( Arg389Cys ) causes a neurodevelopmental disorder overlapping with but not typical for Pitt‐Hopkins syndrome

16. Identification of an A20 critical region harboring missense variations that lead to autoinflammation

19. Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome

21. Autoinflammation liée à l’haploinsuffisance A20 : identification et caractérisation fonctionnelle de nouveaux variants A20

22. The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome

23. uORF-creating mutations in Van der Woude syndrome: why it is important to study 5’UTRs

24. Identification et caractérisation fonctionnelle de mutations de lyn dans une urticaire auto-inflammatoire syndromique

25. AA amyloidosis complicating cryopyrin-associated periodic syndrome: a study of 86 cases including 23 French patients and systematic review

26. De Novo Gain‐Of‐Function Variations in LYN Associated With an Early‐Onset Systemic Autoinflammatory Disorder.

27. Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome.

28. Lésions urticariennes chroniques associées à une hypercytokinémie massive : une nouvelle maladie mendélienne

29. Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C

31. Chronic hepatic involvement in the clinical spectrum of A20 haploinsufficiency

32. Association between familial Mediterranean fever and multiple sclerosis: A case series from the JIR cohort and systematic literature review

33. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4

34. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

35. Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review

36. “ Helicobacter pylori in familial mediterranean fever: A series of 120 patients from literature and from france”

39. High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome

40. Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

42. Fast diagnostic test for familial Mediterranean fever based on a kinase inhibitor

44. Response to Letter to the Editor

45. TCF4 Deletions in Pitt-Hopkins Syndrome

46. The NLRP3 p.A441V mutation in cryopyrin-associated periodic syndrome pathogenesis: functional consequences, phenotype-genotype correlations and evidence for a founder effect

47. Expression des gènes SAA par les monocytes et macrophages humains

48. Expression of SAA1, SAA2 and SAA4 genes in human primary monocytes and monocyte-derived macrophages

50. Congenital Hyperinsulinism: Pancreatic [18F]Fluoro-l-Dihydroxyphenylalanine (DOPA) Positron Emission Tomography and Immunohistochemistry Study of DOPA Decarboxylase and Insulin Secretion

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