KV
Varvagiannis, Konstantinos
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis | Clinical genetics |  | 2021 | 139 | 62 | ||
| Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder | Neuropediatrics |  | 2018 | 535 | 2 | ||
| SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy | American Journal of Medical Genetics. A | | 2017 | 516 | 2 | ||
| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | 2016 | 708 | 244 |
