Search Results - Rueda-Arenas, I.

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  1. 1
    Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

    Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations by Caparrós-Martín, Jose, Valencia, M., Pulido, V., Martínez-Glez, V., Rueda-Arenas, I., Amr, K., Farra, C., Lapunzina, P., Ruiz-Perez, V., Temtamy, S., Aglan, M.

    Published 2013
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  2. 2
    Specific variants in WDR35 cause a distinctive form of ellis-van creveld syndrome by disrupting the recruitment of the evc complex and smo into the cilium

    Specific variants in WDR35 cause a distinctive form of ellis-van creveld syndrome by disrupting the recruitment of the evc complex and smo into the cilium by Caparrós-Martín, Jose, De Luca, A., Cartault, F., Aglan, M., Temtamy, S., Otaify, G., Mehrez, M., Valencia, M., Vázquez, L., Alessandri, J., Nevado, J., Rueda-Arenas, I., Heath, K., Digilio, M., Dallapiccola, B., Goodship, J., Mill, P., Lapunzina, P., Ruiz-Perez, V.

    Published 2015
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