33 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. Peripheral temperature dysregulation associated with functionally altered NaV1.8 channels
7. Unusual phenotypes in patients with a pathogenic germline variant in DICER1
8. Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
9. Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach
10. Functional connectivity signatures of NMDAR dysfunction in schizophrenia—integrating findings from imaging genetics and pharmaco-fMRI
11. DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation
12. 3-jähriger Patient mit bilateralen Wilms-Tumoren: Vorbereitung auf die Facharztprüfung: Fall 107
13. Aberrant phase separation and nucleolar dysfunction in rare genetic diseases
14. Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39
15. Adult human kidney organoids originate from CD24+ cells and represent an advanced model for adult polycystic kidney disease
16. Genetic pain loss disorders
17. Exomsequenzierung bei Kindern und Jugendlichen mit seltenen Erkrankungen: Aktueller Stand, Herausforderungen, Perspektiven
18. Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability
19. Genome sequencing in families with congenital limb malformations
20. Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important
21. The difficulty to model Huntington’s disease in vitro using striatal medium spiny neurons differentiated from human induced pluripotent stem cells
22. Long-read sequencing in human genetics
23. A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways
24. Neuropathische Schmerzsyndrome bei Ionenkanalerkrankungen
25. Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita
26. Noncoding copy-number variations are associated with congenital limb malformation
27. Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation
28. Uniparental disomy as an unexpected cause of Meckel–Gruber syndrome: report of a case
29. Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot
30. Mosaike bei monogenen Erkrankungen
31. Hereditary Sensory Polyneuropathy, Pain Insensitivity and Global Developmental Delay due to Novel Mutation in PRDM12 Gene
32. Missense exchanges in the TTBK2 gene mutated in SCA11
33. The murine AE4 promoter predominantly drives type B intercalated cell specific transcription
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