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Journal Article (4)

  1. 1.
    Journal Article
    Arelin, M.; Schulze, B.; Muller-Myhsok, B.; Horn, D.; Diers, A.; Uhlenberg, B.; Nurnberg, P.; Nurnberg, G.; Becker, C.; Mundlos, S. et al.; Lindner, T. H.; Sperling, K.; Hoffmann, K.: Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 21 (4), pp. 367 - 372 (2013)
  2. 2.
    Journal Article
    Villavicencio-Lorini, P.; Klopocki, E.; Trimborn, M.; Koll, R.; Mundlos, S.; Horn, D.: Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 2012 (2012)
  3. 3.
    Journal Article
    Krawitz, P. M.; Murakami, Y.; Hecht, J.; Kruger, U.; Holder, S. E.; Mortier, G. R.; Delle Chiaie, B.; De Baere, E.; Thompson, M. D.; Roscioli, T. et al.; Kielbasa, S. M.; Kinoshita, T.; Mundlos, S.; Robinson, P. N.; Horn, D.: Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. American Journal of Human Genetics 91 (1), pp. 146 - 151 (2012)
  4. 4.
    Journal Article
    Klopocki, E.; Lohan, S.; Doelken, S. C.; Stricker, S.; Ockeloen, C. W.; Soares Thiele de Aguiar, R.; Lezirovitz, K.; Netto, M.; Jamsheer, A.; Shah, H. et al.; Kurth, I.; Habenicht, R.; Warman, M.; Devriendt, K.; Kordass, U.; Hempel, M.; Rajab, A.; Makitie, O.; Naveed, M.; Radhakrishna, U.; Antonarakis, S. E.; Horn, D.; Mundlos, S.: Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. Journal of Medical Genetics (London) 49 (2), pp. 119 - 125 (2012)
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