Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders von Geis, Tobias, Rödl, Tanja, Topaloğlu, Haluk, Balci-Hayta, Burcu, Hinreiner, Sophie, Müller-Felber, Wolfgang, Schoser, Benedikt, Mehraein, Yasmin, Hübner, Angela, Zirn, Birgit, Hoopmann, Markus, Reutter, Heiko, Mowat, David, Schuierer, Gerhard, Schara, Ulrike, Hehr, Ute, Kölbel, Heike

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Early embryonic chromosome instability results in stable mosaic pattern in human tissues von Mkrtchyan, Hasmik, Gross, Madeleine, Hinreiner, Sophie, Polytiko, Anna, Manvelyan, Marina, Mrasek, Kristin, Kosyakova, Nadezda, Ewers, Elisabeth, Nelle, Heike, Liehr, Thomas, Volleth, Marianne, Weise, Anja

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The Human Genome Puzzle - the Role of Copy Number Variation in Somatic Mosaicism von Mkrtchyan, Hasmik, Gross, Madeleine, Hinreiner, Sophie, Polytiko, Anna, Manvelyan, Marina, Mrasek, Kristin, Kosyakova, Nadezda, Ewers, Elisabeth, Nelle, Heike, Liehr, Thomas, Bhatt, Samarth, Thoma, Karen, Gebhart, Erich, Wilhelm, Sylvia, Fahsold, Raimund, Volleth, Marianne, Weise, Anja

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Doublet‐Mediated DNA Rearrangement—A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions von Jahic, Amir, Hinreiner, Sophie, Emberger, Werner, Hehr, Ute, Zuchner, Stephan, Beetz, Christian

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High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles von Günther, Sven, Elert-Dobkowska, Ewelina, Soehn, Anne S., Hinreiner, Sophie, Yoon, Grace, Heller, Raoul, Hellenbroich, Yorck, Hübner, Christian A., Ray, Peter N., Hehr, Ute, Bauer, Peter, Sulek, Anna, Beetz, Christian

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High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles: HUMAN MUTATION von Günther, Sven, Elert-Dobkowska, Ewelina, Soehn, Anne S., Hinreiner, Sophie, Yoon, Grace, Heller, Raoul, Hellenbroich, Yorck, Hübner, Christian A., Ray, Peter N., Hehr, Ute, Bauer, Peter, Sulek, Anna, Beetz, Christian

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Novel complex t(V;9;22) rearrangements in three cases with chronic myeloid leukemia and a rare translocation in a case with classical Philadelphia chromosome von MKRTCHYAN, Hasmik, GHAZARYAN, Seda, LIEHR, Thomas, AVETISYAN, Gayane, HOVHANNISYAN, Anna, MURADYAN, Laura, DAGHBASHYAN, Smbat, KARST, Constanze, GROSS, Madeleine, HINREINER, Sophie, AROUTIOUNIAN, Rouben

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POD-FISH: A New Technique for Parental Origin Determination Based on Copy Number Variation Polymorphism von Weise, Anja, Gross, Madeleine, Hinreiner, Sophie, Witthuhn, Vera, Mkrtchyan, Hasmik, Liehr, Thomas

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An unexpected finding in a child with neurological problems: mosaic ring chromosome 18 von Koç, Altuğ, Kan, Derya, Karaer, Kadri, Ergün, Mehmet A., Karaoğuz, Meral Yirmibeş, Gücüyener, Kıvılcım, Hinreiner, Sophie, Liehr, Thomas, Perçin, E. Ferda

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Characterization of Chromosomal Rearrangements Using Multicolor-Banding (MCB/m-band) von Liehr, Thomas, Weise, Anja, Hinreiner, Sophie, Mkrtchyan, Hasmik, Mrasek, Kristin, Kosyakova, Nadezda

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Additional file 2: of Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders von Geis, Tobias, Rödl, Tanja, Topaloğlu, Haluk, Balci-Hayta, Burcu, Hinreiner, Sophie, Müller-Felber, Wolfgang, Schoser, Benedikt, Mehraein, Yasmin, Hübner, Angela, Zirn, Birgit, Hoopmann, Markus, Reutter, Heiko, Mowat, David, Schuierer, Gerhard, Schara, Ulrike, Hehr, Ute, Kölbel, Heike

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Additional file 1: of Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders von Geis, Tobias, Rödl, Tanja, Topaloğlu, Haluk, Balci-Hayta, Burcu, Hinreiner, Sophie, Müller-Felber, Wolfgang, Schoser, Benedikt, Mehraein, Yasmin, Hübner, Angela, Zirn, Birgit, Hoopmann, Markus, Reutter, Heiko, Mowat, David, Schuierer, Gerhard, Schara, Ulrike, Hehr, Ute, Kölbel, Heike

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Tumorcytogenetic Diagnostics and Research on Uncultured Blood or Bone Marrow and Smears von Heller, Anita, Gross, Madeleine, Witthuhn, Vera, Behr, Katja, Hinreiner, Sophie, Mkrtchyan, Hasmik, Liehr, Thomas

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Parental Origin Determination FISH: Pod-FISH von Weise, Anja, Mrasek, Kristin, Hasmik, Mkrtchyan, Gross, Madeleine, Hinreiner, Sophie, Vera, Witthuhn, Liehr, Thomas

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