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3. Single-cell, whole-embryo phenotyping of mammalian developmental disorders

4. Single cell, whole embryo phenotyping of pleiotropic disorders of mammalian development

5. Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

7. Functional connectivity signatures of NMDAR dysfunction in schizophrenia—integrating findings from imaging genetics and pharmaco-fMRI

9. Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

10. ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model

11. Sepsis induces long-lasting impairments in CD4+ T-cell responses despite rapid numerical recovery of T-lymphocyte populations

12. Early IFN-α signatures and persistent dysfunction are distinguishing features of NK cells in severe COVID-19

16. Genome sequencing in families with congenital limb malformations

17. Balance between macrophage migration inhibitory factor and sCD74 predicts outcome in patients with acute decompensation of cirrhosis

19. Longitudinal Multi-omics Analyses Identify Responses of Megakaryocytes, Erythroid Cells, and Plasmablasts as Hallmarks of Severe COVID-19

20. Severe COVID-19 Is Marked by a Dysregulated Myeloid Cell Compartment

22. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

24. The difficulty to model Huntington’s disease in vitro using striatal medium spiny neurons differentiated from human induced pluripotent stem cells

26. Noncoding copy-number variations are associated with congenital limb malformation

28. DEGSI-associated aberrant sphingolipid metabolism impairs nervous system function in humans

30. Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

31. Hereditary Sensory and Autonomic Neuropathy: A Case Series of Six Children

32. Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita

33. Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy

36. A second update on mapping the human genetic architecture of COVID-19

37. Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified Criteria

39. Genetic (re-)evaluation to optimize the care of adults with intellectual disability

41. Dissecting CD8+ T cell pathology of severe SARS-CoV-2 infection by single-cell immunoprofiling

42. Germline Variants in MDM4 Cause a Disorder of p53 Dysregulation and Insufficient Telomere Maintenance

44. Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives

47. Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies

48. Dissecting CD8+ T cell pathology of severe SARS-CoV-2 infection by single-cell immunoprofiling

49. Detailed stratified GWAS analysis for severe COVID-19 in four European populations

50. Detailed stratified GWAS analysis for severe COVID-19 in four European populations

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