Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies von Spreiz, A., Haberlandt, E., Baumann, M., Baumgartner Sigl, S., Fauth, C., Gautsch, K., Karall, D., Janetschek, C., Rostasy, K., Scholl-Bürgi, S., Zotter, S., Utermann, G., Zschocke, J., Kotzot, D.

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Whole Genome Amplification from Microdissected Chromosomes von Höckner, M., Erdel, M., Spreiz, A., Utermann, G., Kotzot, D.

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Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations von Höckner, M., Spreiz, A., Frühmesser, A., Tzschach, A., Dufke, A., Rittinger, O., Kalscheuer, V., Singer, S., Erdel, M., Fauth, C., Grossmann, V., Utermann, G., Zschocke, J., Kotzot, D.

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Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype... von Grossmann, V, Höckner, M, Karmous-Benailly, H, Liang, D, Puttinger, R, Quadrelli, R, Röthlisberger, B, Huber, A, Wu, L, Spreiz, A, Fauth, C, Erdel, M, Zschocke, J, Utermann, G, Kotzot, D

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Gonosomale Mosaike von Spreiz, A., Kotzot, D.

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Generation of the human induced pluripotent stem cell line (IBKMOLi003-A) from PBMCs of a vascular Ehlers-Danlos syndrome (vEDS) patient carrying the heterozygous nonsense mutation... von Höpperger, Sabrina, Spathopoulou, Angeliki, Mayer-Suess, Lukas, Suarez-Cubero, Marta, Sillaber, Katharina, Spreiz, Ana, Kiechl, Stefan, Edenhofer, Frank, Fellner, Lisa

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Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation von Frühmesser, Anne, Blake, Jonathon, Haberlandt, Edda, Baying, Bianka, Raeder, Benjamin, Runz, Heiko, Spreiz, Ana, Fauth, Christine, Benes, Vladimir, Utermann, Gerd, Zschocke, Johannes, Kotzot, Dieter

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Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18 von Spreiz, Ana, MS, Guilherme, Roberta S., PhD, Castellan, Claudio, MD, Green, Andrew, MD, Rittinger, Olaf, MD, Wellek, Brigitte, MD, Utermann, Barbara, MD, Erdel, Martin, PhD, Fauth, Christine, MD, Haberlandt, Edda, MD, Kim, Chong A., PhD, Kulikowski, Leslie D., PhD, Meloni, Vera A., MD, Utermann, Gerd, MD, Zschocke, Johannes, MD, PhD, Melaragno, Maria I., PhD, Kotzot, Dieter, MD

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The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability von Vandewalle, Joke, Bauters, Marijke, Van Esch, Hilde, Belet, Stefanie, Verbeeck, Jelle, Fieremans, Nathalie, Holvoet, Maureen, Vento, Jodie, Spreiz, Ana, Kotzot, Dieter, Haberlandt, Edda, Rosenfeld, Jill, Andrieux, Joris, Delobel, Bruno, Dehouck, Marie-Bertille, Devriendt, Koen, Fryns, Jean-Pierre, Marynen, Peter, Goldstein, Amy, Froyen, Guy

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Formation of a familial ring chromosome 18 investigated by SNP-array analysis von Balci, Sevim, Zschocke, Johannes, Kotzot, Dieter, Ergün, Mehmet Ali, Spreiz, Ana

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Novel Mutation in Potassium Channel related Gene KCTD7 and Progressive Myoclonic Epilepsy von Krabichler, Birgit, Rostasy, Kevin, Baumann, Matthias, Karall, Daniela, Scholl-Bürgi, Sabine, Schwarzer, Christoph, Gautsch, Kurt, Spreiz, Ana, Kotzot, Dieter, Zschocke, Johannes, Fauth, Christine, Haberlandt, Edda

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Parental origin and mechanism of formation of a 46,X,der(X)(pter→q21.1::p11.4→pter)/45,X karyotype in a woman with mild Turner syndrome von Binkert, Franz, Ph.D, Spreiz, Ana, Mag, Höckner, Martina, Ph.D, Miny, Peter, M.D, von Dach Leu, Brigitte, M.D, Erdel, Martin, Ph.D, Zschocke, Johannes, M.D., Ph.D, Utermann, Gerd, M.D, Kotzot, Dieter, M.D

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Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21) von Spreiz, Ana, Müller, Doris, Zotter, Sibylle, Albrecht, Ursula, Baumann, Matthias, Fauth, Christine, Erdel, Martin, Zschocke, Johannes, Utermann, Gerd, Kotzot, Dieter

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Microdeletion 19p13.2 in an almost 5‐year‐old boy von Haberlandt, Edda, Spreiz, Ana, Sigl, Sara Baumgartner, Janetschek, Carolin, Röthlisberger, Benno, Zotter, Sibylle, Rostasy, Kevin, Zschocke, Johannes, Kotzot, Dieter

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The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability von Vandewalle, Joke, Bauters, Marijke, Van Esch, Hilde, Belet, Stefanie, Verbeeck, Jelle, Fieremans, Nathalie, Holvoet, Maureen, Vento, Jodie, Spreiz, Ana, Kotzot, Dieter, Haberlandt, Edda, Rosenfeld, Jill, Andrieux, Joris, Delobel, Bruno, Dehouck, Marie-Bertille, Devriendt, Koenraad, Fryns, Jean-Pierre, Marynen, Peter, Goldstein, Amy, Froyen, Guy

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Phenotypic variability of a deletion and duplication 6q16.1 right arrow q21 due to a paternal balanced ins(7; 6)(p15; q16.1q21) von Spreiz, Ana, Mueller, Doris, Zotter, Sibylle, Albrecht, Ursula, Baumann, Matthias, Fauth, Christine, Erdel, Martin, Zschocke, Johannes, Utermann, Gerd, Kotzot, Dieter

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The nature of active sites for the oxidation of methane on La-based perovskites von MILT, V. G, SPRETZ, R, ULLA, M. A, LOMBARDO, E. A, GARCIA FIERRO, J. L

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Microdeletion 19p13.2 in an almost 5-year-old boy von Haberlandt, Edda, Spreiz, Ana, Sigl, Sara Baumgartner, Janetschek, Carolin, Röthlisberger, Benno, Zotter, Sibylle, Rostasy, Kevin, Zschocke, Johannes, Kotzot, Dieter

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