Prokisch H 1

1. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
2. Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia
3. Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia
1