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Journal Article (18)

  1. 1.
    Journal Article
    Thorwarth, A.; Schnittert-Hübener, S.; Schrumpf, P.; Müller, I.; Jyrch, S.; Dame, C.; Biebermann, H.; Kleinau, G.; Katchanov, J.; Schuelke, M. et al.; Ebert, G.; Steininger, A.; Bonnemann, C.; Brockmann, K.; Christen, H. J.; Crock, P.; deZegher, F.; Griese, M.; Hewitt, J.; Ivarsson, S.; Hübner, C.; Kapelari, K.; Plecko, B.; Rating, D.; Stoeva, I.; Ropers, H. H.; Grüters, A.; Ullmann, R.; Krude, H.: Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum. Journal of Medical Genetics 51 (6), pp. 375 - 387 (2014)
  2. 2.
    Journal Article
    Najmabadi, H.; Hu, H.; Garshasbi, M.; Zemojtel, T.; Abedini, S. S.; Chen, W.; Hosseini, M.; Behjati, F.; Haas, S.; Jamali, P. et al.; Zecha, A.; Mohseni, M.; Puttmann, L.; Vahid, L. N.; Jensen, C.; Moheb, L. A.; Bienek, M.; Larti, F.; Mueller, I.; Weissmann, R.; Darvish, H.; Wrogemann, K.; Hadavi, V.; Lipkowitz, B.; Esmaeeli-Nieh, S.; Wieczorek, D.; Kariminejad, R.; Firouzabadi, S. G.; Cohen, M.; Fattahi, Z.; Rost, I.; Mojahedi, F.; Hertzberg, C.; Dehghan, A.; Rajab, A.; Banavandi, M. J.; Hoffer, J.; Falah, M.; Musante, L.; Kalscheuer, V.; Ullmann, R.; Kuss, A. W.; Tzschach, A.; Kahrizi, K.; Ropers, H. H.: Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 478 (7367), pp. 57 - 63 (2011)
  3. 3.
    Journal Article
    Thorwarth, A.; Mueller, I.; Biebermann, H.; Ropers, H.-H.; Grueters, A.; Krude, H.; Ullmann, R.: Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis. The Journal of Clinical Endocrinology & Metabolism 95 (7), pp. 3446 - 3452 (2010)
  4. 4.
    Journal Article
    Tzschach, A.; Bisgaard, A.-M.; Kirchhoff, M.; Graul-Neumann, L. M.; Neitzel, H.; Page, S.; Ahmed, A.; Müller, I.; Erdogan, F.; Ropers, H.-H. et al.; Kalscheuer, V. M.; Ullmann, R.: Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. European Journal of Human Genetics: EJHG 18 (3), pp. 291 - 295 (2010)
  5. 5.
    Journal Article
    Tzschach, A.; Bisgaard, A.-M.; Kirchhoff, M.; Graul-Neumann, L. M.; Neitzel, H.; Page, S.; Ahmed, A.; Müller, I.; Erdogan, F.; Ropers, H.-H. et al.; Kalscheuer, V. M.; Ullmann, R.: Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. European Journal of Human Genetics: EJHG 18 (3), pp. 291 - 295 (2010)
  6. 6.
    Journal Article
    Córdova-Fletes, C.; Rademacher, N.; Müller, I.; Mundo-Ayala, J. N.; Morales-Jeanhs, E. A.; García-Ortiz, J. E.; León-Gil, A.; Rivera, H.; Domínguez, M. G.; Kalscheuer, V. M.: CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome. Clinical Genetics 77 (1), pp. 92 - 96 (2010)
  7. 7.
    Journal Article
    Muradyan, A.; Boldt, V.; Steininger, A.; Stabentheiner, S.; Tebel, K.; Kreutzberger, J.; Müller, I.; Madle, H.; Popper, H. H.; Ullmann, R.: An integrative approach for analyzing the interplay of genetic and epigenetic changes in tumors. Archives of Pathology and Laboratory Medicine 132 (10), pp. 1557 - 1561 (2008)
  8. 8.
    Journal Article
    Muradyan, A.; Boldt, V.; Steininger, A.; Stabentheiner, S.; Tebel, K.; Kreutzberger, J.; Müller, I.; Madle, H.; Popper, H. H.; Ullmann, R.: An integrative approach for analyzing the interplay of genetic and epigenetic changes in tumors. Archives of Pathology and Laboratory Medicine 132 (10), pp. 1557 - 1561 (2008)
  9. 9.
    Journal Article
    Kube, M.; Migdoll, A. M.; Müller, I.; Kuhl, H.; Beck, A.; Reinhardt, R.; Geider, K.: The genome of Erwinia tasmaniensis strain Et1/99, a non-pathogenic bacterium in the genus Erwinia. Environmental Microbiology 10 (9), pp. 2211 - 2222 (2008)
  10. 10.
    Journal Article
    So, J.; Müller, I.; Kunath, M.; Herrmann, S.; Ullmann, R.; Schweiger, S.: Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf-Hirschhorn syndrome. American Journal of Medical Genetics Part A 146A (1), pp. 103 - 109 (2008)
  11. 11.
    Journal Article
    Ullmann, R.; Turner, G.; Kirchhoff, M.; Chen, W.; Tonge, B.; Rosenberg, C.; Field, M.; Vianna-Morgante, A. M.; Christie, L.; Krepischi-Santos, A. C. et al.; Banna, L.; Brereton, A. V.; Hill, A.; Bisgaard, A.-M.; Müller, I.; Hultschig, C.; Erdogan, F.; Wieczorek, G.; Ropers, H.-H.: Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Human Mutation: Variation, Databases, and Disease 28 (7), pp. 674 - 682 (2007)
  12. 12.
    Journal Article
    Ullmann, R.; Turner, G.; Kirchhoff, M.; Chen, W.; Tonge, B.; Rosenberg, C.; Field, M.; Vianna-Morgante, A. M.; Christie, L.; Krepischi-Santos, A. C. et al.; Banna, L.; Brereton, A. V.; Hill, A.; Bisgaard, A.-M.; Müller, I.; Hultschig, C.; Erdogan, F.; Wieczorek, G.; Ropers, H.-H.: Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Human Mutation: Variation, Databases, and Disease 28 (7) (2007)
  13. 13.
    Journal Article
    Erdogan, F.; Chen, W.; Kirchhoff, M.; Kalscheuer, V. M.; Hultschig, C.; Müller, I.; Schulz, A.; Menzel, C.; Bryndorf, T.; Ropers, H.-H. et al.; Ullmann, R.: Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation. Cytogenetic and Genome Research 115 (3-4), pp. 247 - 253 (2006)
  14. 14.
    Journal Article
    Erdogan, F.; Chen, W.; Kirchhoff, M.; Kalscheuer, V. M.; Hultschig, C.; Müller, I.; Schulz, A.; Menzel, C.; Bryndorf, T.; Ropers, H.-H. et al.; Ullmann, R.: Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation. Cytogenetic and Genome Research 115 (3-4), pp. 247 - 253 (2006)
  15. 15.
    Journal Article
    Sudbrak, R.; Beck, A.; Heitmann, K.; Hennig, S.; Klages, S.; Kosiura, A.; Mueller, I.; Reinhardt, R.; Lehrach, H.; et al, ....: The DNA sequence of the human X chromosome. Nature 343 (7031), pp. 325 - 337 (2005)
  16. 16.
    Journal Article
    Sudbrak, R.; Beck, A.; Heitmann, K.; Hennig, S.; Klages, S.; Kosiura, A.; Mueller, I.; Reinhardt, R.; Lehrach, H.; et al: The DNA sequence of the human X chromosome. Nature 343 (7031), pp. 325 - 337 (2005)
  17. 17.
    Journal Article
    Abdelkhalek, H. B.; Beckers, A.; Schuster-Gossler, K.; Pavlova, M. N.; Burkhardt, H.; Lickert, H.; Rossant, J.; Reinhardt, R.; Schalkwyk, L. C.; Müller, I. et al.; Herrmann, B. G.; Ceolin, M.; Rivera-Pomar, R.; Gossler, A.: The mouse homeobox gene Not is required for caudal notochord development and affected by the truncate mutation. Genes and Development 18 (14), pp. 1725 - 1736 (2004)
  18. 18.
    Journal Article
    Hurt, P.; Walter, L.; Sudbrak, R.; Klages, S.; Mueller, I.; Shiina, T.; Inoko, H.; Lehrach, H.; Guenther, E.; Reinhardt, R. et al.; Himmelbauer, H.: The genomic sequence and comparative analysis of the rat major histocompatibility complex. Genome Research 14 (4), pp. 631 - 639 (2004)
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