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627 results on '"Jean-Charles Deybach"'

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1. Current and innovative emerging therapies for porphyrias with hepatic involvement

2. Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria

3. Autofluorescence imaging within the liver: a promising tool for the detection and characterization of primary liver tumors

4. Les porphyries héréditaires : anomalies du métabolisme de l’hème

5. International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias

6. Systemic Administered mRNA as Therapy for Metabolic Diseases

7. Enquête PAI-France : prévalence des symptômes aigus et chroniques dans la porphyrie aiguë intermittente

8. FRI-442-Acute hepatic porphyria disease manifestations and daily life impacts in EXPLORE international, prospective, natural history study

9. EXPLORE : Étude prospective, multinationale de l’évolution naturelle des patients atteints de porphyrie hépatique aiguë avec des crises récurrentes

10. Porphyrias: A 2015 update

11. From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria

12. Les porphyries héréditaires : anomalies du métabolisme de l’hème

13. Antisense Oligonucleotide-Based Therapy in Human Erythropoietic Protoporphyria

14. Explore : étude prospective, multinationale de l’évolution naturelle des patients atteints de porphyrie hépatique aiguë avec des crises récurrentes

15. Trends in healthcare utilization in the United States and Europe associated with patient with acute hepatic porphyria with recurrent attacks in EXPLORE: A prospective, multinational natural history study of patients with acute hepatic porphyria

16. EXPLORE: A prospective, multinational natural history study of patients with acute hepatic porphyria with recurrent attacks

17. FRI-440-Management of acute hepatic porphyria attacks in europe and united states: EXPLORE international, prospective, natural history study

18. Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP)

19. Hemolytic anemia repressed hepcidin level without hepatocyte iron overload: lesson from Günther disease model

20. Influence of meteorological data on sun tolerance in patients with erythropoietic protoporphyria in France

21. The incidence of inherited porphyrias in Europe

22. A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases

23. Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases

24. ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis

25. Comprehensive cytochrome P450 CYP1A2 gene analysis in French caucasian patients with familial and sporadic porphyria cutanea tarda

26. ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria

28. La protoporphyrie érythropoïétique : une maladie, deux gènes et trois mécanismes moléculaires

29. An Analysis of Healthcare Utilization and Costs Associated with Patients with Acute Hepatic Porphyrias (AHPS) with Recurrent Attacks in Explore: A Prospective, Multinational Natural History Study of Patients with AHP

30. Impact of acute hepatic porphyrias on quality of life and work loss: An analysis of EXPLORE natural history study

31. A genetic schizophrenia-susceptibility region located between the ANKK1 and DRD2 genes

32. Le monde complexe et mouvant des ARN. Première partie

33. KRAS et cancer colorectal : un pas de géant vers la médecine personnalisée

34. Notions de génétique moléculaire pour comprendre l’hérédité

35. Les techniques de séquençage de l’ADN : une révolution en marche. Première partie

36. Une douleur abdominale

37. C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload

38. The V249I polymorphism of the CX3CR1 gene is associated with fibrostenotic disease behavior in patients with Crohnʼs disease

39. Détection de la trisomie 21 par l’étude de l’ADN

40. Les maladies rares (ou orphelines): organisation générale de leur prise en charge en 2007

41. Maladie de Crohn et génétique: connaissances actuelles

42. Afamelanotide for Erythropoietic Protoporphyria

43. L'instabilité des microsatellites dans les cancers du côlon

44. Les hémochromatoses héréditaires : partie III. Les autres hémochromatoses héréditaires

45. Les hémochromatoses héréditaires : partie II. L'hémochromatose héréditaire liée au HFE (HFE1)

46. Les hémochromatoses héréditaires

47. Biochemical compared to molecular diagnosis in acute intermittent porphyria

48. Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria

49. Late-Onset X-Linked Dominant Protoporphyria: An Etiology of Photosensitivity in the Elderly

50. Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease)

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