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  1. Article

    Open Access

    A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report

    Congenital Disorders of Glycosylation (CDG) are a large group of inborn errors of metabolism with more than 140 different CDG types reported to date (1). The first characterized, PMM2-CDG, with an autosomal re...

    E. Lebredonchel, A. Riquet, D. Neut, F. Broly, G. Matthijs… in Italian Journal of Pediatrics (2022)

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  2. Article

    Erratum: The emerging role of Twist proteins in hematopoietic cells and hematological malignancies

    Correction to: Blood Cancer Journal (2014) 4, e206; doi:10.1038/bcj.2014.22; published online 25 April 2014 Since the publication of this article, the authors have identified an error concerning the correspond...

    N Merindol, A Riquet, V Szablewski, J-F Eliaou, A Puisieux… in Blood Cancer Journal (2014)

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  3. Article

    Open Access

    The emerging role of Twist proteins in hematopoietic cells and hematological malignancies

    Twist1 and Twist2 (Twist1–2) are two transcription factors, members of the basic helix-loop-helix family, that have been well established as master transcriptional regulators of embryogenesis and developmental...

    N Merindol, A Riquet, V Szablewski, J-F Eliaou, A Puisieux… in Blood Cancer Journal (2014)

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