Søgeresultater - Strom, Tim M.

Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment af Beygo, Jasmin, Bürger, Joachim, Strom, Tim M., Kaya, Sabine, Buiting, Karin

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Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets af Lorenz-Depiereux, Bettina, Schnabel, Dirk, Tiosano, Dov, Häusler, Gabriele, Strom, Tim M.

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Genotype and Phenotype in an unusual form of Laurence–Moon–Bardet–Biedl syndrome af Kamme, Christina, Mayer, Anja Kathrin, Strom, Tim M., Andréasson, Sten, Weisschuh, Nicole

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Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases af Kolarova, Hana, Tan, Jing, Strom, Tim M., Meitinger, Thomas, Wagner, Matias, Klopstock, Thomas

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Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing af Rath, Matthias, Spiegler, Stefanie, Strom, Tim M., Trenkler, Johannes, Kroisel, Peter Michael, Felbor, Ute

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A novel homozygous variant in exon 10 of the GALNT3 gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India af Dayal, Devi, Gupta, Shruti, Kumar, Rakesh, Srinivasan, Radhika, Lorenz-Depiereux, Bettina, Strom, Tim M

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Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discovery af Eck, Sebastian H, Benet-Pagès, Anna, Flisikowski, Krzysztof, Meitinger, Thomas, Fries, Ruedi, Strom, Tim M

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Classic Selective Sweeps Revealed by Massive Sequencing in Cattle af Qanbari, Saber, Pausch, Hubert, Jansen, Sandra, Somel, Mehmet, Strom, Tim M., Fries, Ruedi, Nielsen, Rasmus, Simianer, Henner

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Genomic factors related to tissue tropism in Chlamydia pneumoniae infection af Weinmaier, Thomas, Hoser, Jonathan, Eck, Sebastian, Kaufhold, Inga, Shima, Kensuke, Strom, Tim M, Rattei, Thomas, Rupp, Jan

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SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities af Zech, Michael, Poustka, Katharina, Boesch, Sylvia, Berutti, Riccardo, Strom, Tim M., Grisold, Wolfgang, Poewe, Werner, Winkelmann, Juliane

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Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb af Umair, Muhammad, Shah, Khadim, Alhaddad, Bader, Haack, Tobias B, Graf, Elisabeth, Strom, Tim M, Meitinger, Thomas, Ahmad, Wasim

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CpG-Methylation Regulates a Class of Epstein-Barr Virus Promoters af Bergbauer, Martin, Kalla, Markus, Schmeinck, Anne, Göbel, Christine, Rothbauer, Ulrich, Eck, Sebastian, Benet-Pagès, Anna, Strom, Tim M., Hammerschmidt, Wolfgang

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A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome af Beygo, Jasmin, Joksic, Ivana, Strom, Tim M, Lüdecke, Hermann-Josef, Kolarova, Julia, Siebert, Reiner, Mikovic, Zeljko, Horsthemke, Bernhard, Buiting, Karin

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Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases af Tan, Jing, Wagner, Matias, Stenton, Sarah L., Strom, Tim M., Wortmann, Saskia B., Prokisch, Holger, Meitinger, Thomas, Oexle, Konrad, Klopstock, Thomas

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Corrigendum to “Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases” [EBioMedicine 54 (2020) 102730] af Tan, Jing, Wagner, Matias, Stenton, Sarah L., Strom, Tim M., Wortmann, Saskia B., Prokisch, Holger, Meitinger, Thomas, Oexle, Konrad, Klopstock, Thomas

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Time- and compartment-resolved proteome profiling of the extracellular niche in lung injury and repair af Schiller, Herbert B, Fernandez, Isis E, Burgstaller, Gerald, Schaab, Christoph, Scheltema, Richard A, Schwarzmayr, Thomas, Strom, Tim M, Eickelberg, Oliver, Mann, Matthias

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A High Resolution Genome-Wide Scan for Significant Selective Sweeps: An Application to Pooled Sequence Data in Laying Chickens af Qanbari, Saber, Strom, Tim M., Haberer, Georg, Weigend, Steffen, Gheyas, Almas A., Turner, Frances, Burt, David W., Preisinger, Rudolf, Gianola, Daniel, Simianer, Henner

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Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation af Wagenstaller, Janine , Spranger, Stephanie , Lorenz-Depiereux, Bettina , Kazmierczak, Bernd , Nathrath, Michaela , Wahl, Dagmar , Heye, Babett , Gläser, Dieter , Liebscher, Volkmar , Meitinger, Thomas , Strom, Tim M. 

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Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage af Jansen, Sandra, Aigner, Bernhard, Pausch, Hubert, Wysocki, Michal, Eck, Sebastian, Benet-Pagès, Anna, Graf, Elisabeth, Wieland, Thomas, Strom, Tim M, Meitinger, Thomas, Fries, Ruedi

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Overexpression of UHRF1 promotes silencing of tumor suppressor genes and predicts outcome in hepatoblastoma af Beck, Alexander, Trippel, Franziska, Wagner, Alexandra, Joppien, Saskia, Felle, Max, Vokuhl, Christian, Schwarzmayr, Thomas, Strom, Tim M., von Schweinitz, Dietrich, Längst, Gernot, Kappler, Roland

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