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1. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

2. Enabling External Inquiries to an Existing Patient Registry by Using the Open Source Registry System for Rare Diseases: Demonstration of the System Using the European Society for Immunodeficiencies Registry

4. Generation of complex bone marrow organoids from human induced pluripotent stem cells

7. Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards

9. Democratizing knowledge representation with BioCypher

10. Gasdermin D drives focal crystalline thrombotic microangiopathy by accelerating immunothrombosis and necroinflammation

11. Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival

14. Transition for adolescents with a rare disease: results of a nationwide German project

15. Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitis

16. Clinical and functional spectrum of RAC2-related immunodeficiency

19. Brain expression profiles of two SCN1A antisense RNAs in children and adolescents with epilepsy

20. C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib

23. Transcatheter Aortic Valve Replacement for Isolated Aortic Regurgitation Using a New Self-Expanding TAVR System

25. Investigation of performance and the influence of environmental conditions on strip detectors for the ATLAS Inner Tracker Upgrade

26. Hematologically important mutations: Leukocyte adhesion deficiency (second update)

27. Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes

28. The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

29. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee

31. Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension

37. Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis

38. An Integrated Taxonomy for Monogenic Inflammatory Bowel Disease

40. The dissociating effects of fear and disgust on multisensory integration in autism: evidence from evoked potentials.

41. Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis

42. NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency

43. Disseminated tumour cells from the bone marrow of early breast cancer patients: Results from an international pooled analysis

47. Retrieval of vector integration sites from cell-free DNA

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