P483: Novel biallelic LIG3 mutations causing lethal phenotype of mtDNA depletion syndrome 20: A case solved by multi-omics research re-analysisErica Schindewolf, Ramakrishnan Rajagopalan, K. Mauer et al.|Genetics in Medicine Open|2025Cited by 0
A Case of Very Early-Onset Inflammatory Bowel Disease due to a Novel RIPK1 Variant Confirmed by Western BlotGonench Kilich, Kathleen E. Sullivan, Priscila Cunha et al.|Journal of Human Immunity|2025Cited by 0
Immunodeficiency in Mitochondrial DNA Depletion Syndrome 20: A New Phenotypic Insight into LIG3 MutationsGonench Kilich, Kathleen E. Sullivan, Rebecca Ganetzky et al.|Journal of Human Immunity|2025Cited by 0