KV
Varvagiannis, Konstantinos
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study | European journal of human genetics |  | 2024 | 10 | 24 | ||
| CAMTA1-related disorder : Phenotypic and molecular characterization of 26 new individuals and literature review | Clinical genetics |  | 2024 | 8 | 0 | ||
| Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis | Clinical genetics | | 2021 | 165 | 87 | ||
| Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder | Neuropediatrics | | 2018 | 587 | 2 | ||
| SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy | American Journal of Medical Genetics. A | | 2017 | 544 | 2 | ||
| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | 2016 | 742 | 277 |
