Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
Veltman, Joris A, Vissers, Lisenka E L M, van Ravenswaaij, Conny M A, Admiraal, Ronald, Hurst, Jane A, de Vries, Bert B A, Janssen, Irene M, van der Vliet, Walter A, Huys, Erik H L P G, de Jong, Pieter J, Hamel, Ben C J, Schoenmakers, Eric F P M, Brunner, Han G, van Kessel, Ad Geurts
Published in Nature genetics (01.09.2004)
Published in Nature genetics (01.09.2004)
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Diagnostic Genome Profiling in Mental Retardation
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Published in American journal of human genetics (01.10.2005)
Published in American journal of human genetics (01.10.2005)
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XX male with sex reversal and a de novo 11;22 translocation
Macville, Merryn V.E., Loneus, Wim H., Marcus-Soekarman, Dominique, Huys, Erik H.L.P.G., Schoenmakers, Eric F.P.M., Schrank-Hacker, April, Emanuel, Beverly S., Engelen, John J.M.
Published in American journal of medical genetics. Part A (15.09.2006)
Published in American journal of medical genetics. Part A (15.09.2006)
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Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities
Vissers, Lisenka E.L.M., de Vries, Bert B.A., Osoegawa, Kazutoyo, Janssen, Irene M., Feuth, Ton, Choy, Chik On, Straatman, Huub, van der Vliet, Walter, Huys, Erik H.L.P.G., van Rijk, Anke, Smeets, Dominique, van Ravenswaaij-Arts, Conny M.A., Knoers, Nine V., van der Burgt, Ineke, de Jong, Pieter J., Brunner, Han G., van Kessel, Ad Geurts, Schoenmakers, Eric F.P.M., Veltman, Joris A.
Published in American journal of human genetics (01.12.2003)
Published in American journal of human genetics (01.12.2003)
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