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217 results on '"Kurth, Ingo"'

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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

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

6. Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia

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

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

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

12. Adult human kidney organoids originate from CD24+ cells and represent an advanced model for adult polycystic kidney disease

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

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

18. Genome sequencing in families with congenital limb malformations

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

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

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

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

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

33. The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME

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

36. Peripheral temperature dysregulation associated with functionally altered NaV1.8 channels.

39. Unusual phenotypes in patients with a pathogenic germline variant in DICER1.

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

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

47. WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

49. Regulation of endoplasmic reticulum turnover by selective autophagy

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