Now showing items 1-2 of 2

    Issue DateTitleAuthor(s)
    30 November 2021Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency  Fasham, J; Lin, S; Ghosh, P; et al.
    21 May 2021Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms  Wright, CF; Quaife, NM; Ramos-Hernández, L; et al.