Showing results 1 to 8 of 8
Title | Author(s) | Issue Date | |
---|---|---|---|
2019 | |||
Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome Journal:Clinica Chimica Acta | 2019 | ||
2021 | |||
Postzygotic inactivating mutation of KIF13A located at chromosome 6p22.3 in a patient with a novel mosaic neuroectodermal syndrome Journal:Journal of Human Genetics | 2021 | ||
Serum ceruloplasmin monitoring in a case of silver intoxication due to intravenous silver infusion Journal:Clinical Toxicology | 2021 | ||
‘Silver man’ – A first case report of silver associated steatohepatitis (SASH) and discussion of its pathomechanism Proceeding/Conference:Pathology | 2020 | ||
Urine Organic Acid (UOA) Analysis for the diagnosis of Aromatic L-Amino Acid Decarboxylase (AADC) deficiency Proceeding/Conference:Pathology | 2020 | ||
2021 |