Now showing items 1-2 of 2

    Issue DateTitleAuthor(s)
    8 January 2019An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia  Rawlins, LE; Jones, H; Wenger, O; et al.
    20 May 2021Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency  Lin, S; Fasham, J; Al-Hijawi, F; et al.