publication venue for
- Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder.. 7. 2021
- GLUT1 deficiency: Retinal detrimental effects of gliovascular modulation.. 6. 2020
- Epidemiology of DYT1 dystonia: Estimating prevalence via genetic ascertainment.. 5. 2019
- Comparing sequencing assays and human-machine analyses in actionable genomics for glioblastoma.. 3. 2017
- Intramyocellular lipid excess in the mitochondrial disorder MELAS: MRS determination at 7T.. 3. 2017
- KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.. 2. 2016