Search Results - "Duim, R. A. J."

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  1. 1
    Splice site mutations in GH1 detected in previously (Genetically) undiagnosed families with congenital isolated growth hormone deficiency type II

    Splice site mutations in GH1 detected in previously (Genetically) undiagnosed families with congenital isolated growth hormone deficiency type II by Kempers, M J E, van der Crabben, S N, de Vroede, M, Alfen-van der Velden, J, Netea-Maier, R T, Duim, R A J, Otten, B J, Losekoot, M, Wit, J M

    Published in Hormone research in paediatrics (01-01-2013)
    “…Congenital isolated growth hormone deficiency (IGHD) is a rare endocrine disorder that presents with severe proportionate growth failure. Dominant (type II)…”
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  2. 2
    Heterogeneous and Complex Rearragements of the Long Arm of Chromosome 6 in Chondromyxoid Fibroma

    Heterogeneous and Complex Rearragements of the Long Arm of Chromosome 6 in Chondromyxoid Fibroma by Romeo, S., Duim, R. A. J., Bridge, J. A., Mertens, Fredrik, De Jong, D., Dal Cin, P., Wijers-Koster, P. M., Debiec, Magdalena, Sciot, R., Rosenberg, A., Szuhai, K., Hogendoorn, P. C. W.

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    Balanced and Unbalanced Rearrangement of Chromosome Arm 6q in Chondromyxoid Fibroma (CMF): Delineation of Breakpoints and Analysis of Candidate Target Genes

    Balanced and Unbalanced Rearrangement of Chromosome Arm 6q in Chondromyxoid Fibroma (CMF): Delineation of Breakpoints and Analysis of Candidate Target Genes by Romeo, S., Duim, R. A. J., Mertens, Fredrik, De Jong, D., Dal Cin, P., Debiec-Rychter, M., Sciot, R., Rosenberg, A, Szuhai, K., Hogendoorn, P. C. W.

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