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List of works by Eri Imagawa

A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia

scientific article published on 03 September 2018

Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales

scientific article published on 21 May 2018

Novel SUZ12 mutations in Weaver-like syndrome

scientific article published on 06 August 2018

Novel missense variants in PCK1 gene cause cytosolic PEPCK deficiency with growth failure from inadequate caloric intake

scientific article published on 09 September 2020

PRUNE1-related disorder: Expanding the clinical spectrum

scientific article published on 26 June 2018

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