655 results on '"Kurth, Ingo"'
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2. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
3. CNVizard—a lightweight streamlit application for an interactive analysis of copy number variants
4. Label-free single-cell RNA multiplexing leveraging genetic variability
5. Single-cell, whole-embryo phenotyping of mammalian developmental disorders
6. Single cell, whole embryo phenotyping of pleiotropic disorders of mammalian development
7. Peripheral temperature dysregulation associated with functionally altered NaV1.8 channels
8. Unusual phenotypes in patients with a pathogenic germline variant in DICER1
9. Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia
10. Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
11. Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach
12. Functional connectivity signatures of NMDAR dysfunction in schizophrenia—integrating findings from imaging genetics and pharmaco-fMRI
13. DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation
14. 3-jähriger Patient mit bilateralen Wilms-Tumoren: Vorbereitung auf die Facharztprüfung: Fall 107
15. Aberrant phase separation and nucleolar dysfunction in rare genetic diseases
16. Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39
17. Adult human kidney organoids originate from CD24+ cells and represent an advanced model for adult polycystic kidney disease
18. ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model
19. Sepsis induces long-lasting impairments in CD4+ T-cell responses despite rapid numerical recovery of T-lymphocyte populations
20. Genetic pain loss disorders
21. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases
22. Exomsequenzierung bei Kindern und Jugendlichen mit seltenen Erkrankungen: Aktueller Stand, Herausforderungen, Perspektiven
23. Early IFN-α signatures and persistent dysfunction are distinguishing features of NK cells in severe COVID-19
24. Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability
25. Germline variants in DNA repair genes, including BRCA1/2, may cause familial myeloproliferative neoplasms
26. Alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and overgrowth – Association with a homozygous 2bp-insertion in LTBP2?
27. Genome sequencing in families with congenital limb malformations
28. Balance between macrophage migration inhibitory factor and sCD74 predicts outcome in patients with acute decompensation of cirrhosis
29. Complex structural variation and nonsense variant in trans cause VPS50- related disorder.
30. Longitudinal Multi-omics Analyses Identify Responses of Megakaryocytes, Erythroid Cells, and Plasmablasts as Hallmarks of Severe COVID-19
31. Severe COVID-19 Is Marked by a Dysregulated Myeloid Cell Compartment
32. Long-read sequencing to understand genome biology and cell function
33. A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability
34. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases
35. Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important
36. The difficulty to model Huntington’s disease in vitro using striatal medium spiny neurons differentiated from human induced pluripotent stem cells
37. Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia
38. Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations
39. Noncoding copy-number variations are associated with congenital limb malformation
40. Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering
41. DEGSI-associated aberrant sphingolipid metabolism impairs nervous system function in humans
42. Long-read sequencing in human genetics
43. A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways
44. Human Genetics of Pain
45. Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
46. Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort
47. Hereditary Sensory and Autonomic Neuropathy: A Case Series of Six Children
48. Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy
49. Human Genetics of Pain
50. The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME
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