10 results on '"Bonnemann, Carsten"'
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2. The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy
3. Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets
4. PIEZO2‐dependent rapid pain system in humans and mice
5. Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis
6. Intermediate filament dysregulation and astrocytopathy in the human disease model ofKLHL16mutation in giant axonal neuropathy (GAN)
7. SPTLC1 variants associated with childhood onset amyotrophic lateral sclerosis produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins
8. A long-read RNA-seq approach to identify novel transcripts of very large genes
9. A new long-read RNA-seq analysis approach identifies and quantifies novel transcripts of very large genes
10. Quantifying genetic regulatory variation in human populations improves transcriptome analysis in rare disease patients
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