4 results on '"Bedoyan, Jirair K."'
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2. The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification
3. Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant
4. Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency
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