Showing results 1 to 2 of 2
Title | Author(s) | Issue Date | |
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C-terminal truncated SPOP, a Janus-faced variant, causing a mixed type 1 and type 2 Nabais Sa-de Vries syndrome Journal:Clinica Chimica Acta | 2022 | ||
Urine Organic Acid (UOA) Analysis for the diagnosis of Aromatic L-Amino Acid Decarboxylase (AADC) deficiency Proceeding/Conference:Pathology | 2020 |