Search Results - Hussaarts-Odijk, Lidia

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  1. 1
    Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails

    Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails by Kuo, Molly E., Theil, Arjan F., Kievit, Anneke, Malicdan, May Christine, Introne, Wendy J., Christian, Thomas, Verheijen, Frans W., Smith, Desiree E.C., Mendes, Marisa I., Hussaarts-Odijk, Lidia, van der Meijden, Eric, van Slegtenhorst, Marjon, Wilke, Martina, Vermeulen, Wim, Raams, Anja, Groden, Catherine, Shimada, Shino, Meyer-Schuman, Rebecca, Hou, Ya Ming, Gahl, William A., Antonellis, Anthony, Salomons, Gajja S., Mancini, Grazia M.S.

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    Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency

    Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency by Vaz, F.M., Scholte, H.R., Ruiter, J., Hussaarts-Odijk, L.M., Rodrigues Pereira, R., Schweitzer, S., de Klerk, J.B.C., Waterham, H.R., Wanders, R.J.A.

    Published in Human genetics
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