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You searched for: Author/Creator Ohtake, A.

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1. DNM1L‐related encephalopathy in infancy with Leigh syndrome‐like phenotype and suppression‐burst. Issue 5 (14th June 2016)

4. Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial‐RNA‐import protein PNPase cause delayed myelination. Issue 2 (4th October 2017)

5. Protein‐altering variants of PTPN2 in childhood‐onset Type 1A diabetes. Issue 3 (3rd January 2018)