1,721,498 research outputs found

    Emerging genomic disorders in mental retardation.

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    Contains fulltext : 88731.pdf (Publisher’s version ) (Open Access)Radboud Universiteit Nijmegen, 25 november 2010Promotor : Brunner, H.G. Co-promotor : Vries, L.B.A. de318 p

    Phenotype-guided disease investigation using bioinformatics.

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    Contains fulltext : 76559.pdf (Publisher’s version ) (Open Access)RU Radboud Universiteit Nijmegen, 30 juni 2010Promotores : Brunner, H.G., Huijnen, M.A.144 p

    Clinical, genetic and functional characterization of intellectual disability disorders

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    Contains fulltext : 129680.pdf (Publisher’s version ) (Open Access)Radboud Universiteit Nijmegen, 22 september 2014Promotores : Brunner, H.G., Reis, A. Co-promotor : Schenck, A

    Exploring pharmacogenetics in osteosarcoma

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    Contains fulltext : 252878.pdf (Publisher’s version ) (Open Access)Radboud University, 06 september 2022Promotor : Brunner, H.G. Co-promotores : Coenen, M.J.H., Loo, D.M.W.M. te221 p

    The etiology of the VACTERL association: maternal and genetic risk factors

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    Contains fulltext : 222395.pdf (Publisher’s version ) (Open Access)Radboud University, 28 oktober 2020Promotor : Brunner, H.G. Co-promotores : Roeleveld, N., Rooij, I.A.L.M. va

    Genotype-phenotype studies in rare chromosome aberrations

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    Contains fulltext : 115714.pdf (Publisher’s version ) (Open Access)Radboud Universiteit Nijmegen, 08 mei 2013Promotores : Brunner, H.G., Ravenswaaij-Arts, C.M.A. va

    The power of three: combining genotype, phenotype, and functional data for accurate diagnosis and management of ciliopathies

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    Contains fulltext : 176484.pdf (Publisher’s version ) (Open Access)Radboud University, 10 oktober 2017Promotores : Roepman, R., Brunner, H.G. Co-promotor : Arts, H.H

    Glyc-O-genetics of Walker-Warburg syndrome.

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    Contains fulltext : 70160.pdf (Publisher’s version ) (Open Access)RU Radboud Universiteit Nijmegen, 24 november 2008Promotor : Brunner, H.G. Co-promotor : Bokhoven, J.H.L.M. van142 p

    Congenital Cranial Dysinnervation Disorders. A genetic perspective into hereditary congenital Facial paresis and Möbius Syndrome.

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    Contains fulltext : 27404.pdf (Publisher’s version ) (Open Access)RU Radboud Universiteit Nijmegen, 17 maart 2006Promotores : Padberg, G.W.A.M., Brunner, H.G. Co-promotor : Bokhoven, J.H.L.M. van188 p

    Molecular Genetics of EEC Syndrome and Related Disorders.

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    Contains fulltext : 49185.pdf (Publisher’s version ) (Open Access)RU Radboud Universiteit Nijmegen, 12 oktober 2005Promotor : Brunner, H.G. Co-promotor : Bokhoven, J.H.L.M. van207 p
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