Department of Pediatrics and medical genetics
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- 2017
- The extracellular RNA quality control (exRNAQC) study: testing and controlling pre-analytical variables of RNA sequencing on liquid biopsies
- Accumulation of uraemic toxins is reflected only partially by estimated GFR in paediatric patients with chronic kidney disease
- COMPREHENSIVE PHARMACOLOGICAL PROFILING IN NEUROBLASTOMA CELL LINES USING DEEP COVERAGE MICROSCOPY
- Autonomic symptoms in patients with moderate and severe chronic obstructive pulmonary disease
- How long noncoding RNAs enforce their will on mitochondrial activity : regulation of mitochondrial respiration, reactive oxygen species production, apoptosis, and metabolic reprogramming in cancer
- The EuroMyositis registry: an international collaborative tool to facilitate myositis research
- Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
- CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients
- Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores
- Ophthalmic findings in patients with arterial tortuosity syndrome and carriers : a case series