Search

Your search keyword '"CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP)"' showing total 153 results

Search Constraints

Start Over You searched for: Author "CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP)" Remove constraint Author: "CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP)"
153 results on '"CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP)"'

Search Results

1. Inhibition of IFNα secretion in cells from patients with juvenile dermatomyositis under TBK1 inhibitor treatment revealed by single-molecular assay technology

2. The clinicopathologic characteristics of kidney diseases related to monotypic IgA deposits

3. Autosomal Dominant STAT3 Deficiency and Hyper-IgE Syndrome

4. Clinical and molecular spectrum of renal malformations in Kabuki syndrome

5. Mutation screening of the EYA1, SIX1 and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations

6. LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

7. The clinical spectrum of IgM-related amyloidosis: a French nationwide retrospective study of 72 patients

8. Decreased expression of Intestinal I- and L-FABP levels in rare human genetic lipid malabsorption syndromes

9. Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

10. Targeted temperature management in the ICU: Guidelines from a French expert panel

11. Multimorbidity in Elderly Persons According to the Year of Diagnosis of Human Immunodeficiency Virus Infection: A Cross-sectional Dat’AIDS Cohort Study

12. The tetraspanin CD9 controls migration and proliferation of parietal epithelial cells and glomerular disease progression

13. Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY

14. EML1-associated brain overgrowth syndrome with ribbon-like heterotopia

15. CTP synthetase activity assay by liquid chromatography tandem mass spectrometry in the multiple reaction monitoring mode

16. Exome sequencing findings in 27 patients with myoclonic-atonic epilepsy: Is there a major genetic factor?

17. A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management

18. Randall-type monoclonal immunoglobulin deposition disease: novel insights from a nationwide cohort study

19. Neurological Involvement in Childhood Evans Syndrome

20. Successful Treatment of Saksenaea sp. Osteomyelitis by Conservative Surgery and Intradiaphyseal Incorporation of Amphotericin B Cement Beads

21. Intra-monocyte Pharmacokinetics of Imiglucerase Supports a Possible Personalized Management of Gaucher Disease Type 1

22. Associations of black carbon with lung function and airway inflammation in schoolchildren

23. Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

24. Design of Potent Mannose 6-Phosphate Analogues for the Functionalization of Lysosomal Enzymes To Improve the Treatment of Pompe Disease

25. Polyfunctional HIV-specific T cells in Post-Treatment Controllers

26. French Intensive Care Society, International congress – Réanimation 2016

27. Prognostic factors of disease severity in infants with sickle cell anemia: A comprehensive longitudinal cohort study

28. Effect of High-Flow Nasal Oxygen vs Standard Oxygen on 28-Day Mortality in Immunocompromised Patients With Acute Respiratory Failure

29. Manual dexterity, but not cerebral palsy, predicts cognitive functioning after neonatal stroke

30. Efficacité et tolérance du fébuxostat chez 73 patients goutteux avec une insuffisance rénale chronique stade 4/5 : étude rétrospective de 10 centres

31. Targeted therapy in patients with PIK3CA-related overgrowth syndrome

32. Predominance of G9P[8] Rotavirus Strains throughout France, 2014-2017

33. Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies

34. Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry

35. Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome

36. Diffuse intrinsic pontine gliomas (DIPG) at recurrence: is there a window to test new therapies in some patients?

37. Severe dermatophytosis in solid organ transplant recipients: A French retrospective series and literature review

38. Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome

39. What Is the most Important for Elite Control: Genetic Background of Patient, Genetic Background of Partner, both or neither? Description of Complete Natural History within a Couple of MSM

40. Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome

41. mTOR pathway activation in large vessel vasculitis

42. Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases

43. Management of rare diseases of the Head, Neck and Teeth: results of a French population-based prospective 8-year study

44. Temporal trends in prognostic markers of HIV-1 virulence and transmissibility: an observational cohort study

45. Autosomal recessive primary microcephaly due to ASPM mutations: An update

46. Association of transcallosal motor fibres with function of both hands after unilateral neonatal arterial ischemic stroke

47. Clinical and Genetic Spectrum of Bartter Syndrome Type 3

48. 1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15–16 November 2016, Evry, France

49. Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia

50. Outcome after failure of allogeneic hematopoietic stem cell transplantation in children with acute leukemia: a study by the société Francophone de greffe de moelle et de thérapie cellulaire (SFGM-TC)

Catalog

Books, media, physical & digital resources