Department of Pediatrics and medical genetics
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- 2017
- Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
- Early and late outcomes after surgical management of congenital vascular rings
- Thermodynamic framework to assess low abundance DNA mutation detection by hybridization
- MicroRNA-184 is a downstream effector of albuminuria driving renal fibrosis in rats with diabetic nephropathy
- Influence of microRNAs and Long Non-Coding RNAs in Cancer Chemoresistance
- Direct comparison of distinct naive pluripotent states in human embryonic stem cells
- Enuresis: practical guidelines for primary care
- Conditional islet hypovascularisation does not preclude beta cell expansion during pregnancy in mice
- The role of the MTHFR C677T polymorphism in methotrexate-induced toxicity in pediatric osteosarcoma patients
- arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs