Výsledky vyhledávání - Strom, Tim M.
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Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets Autor Lorenz-Depiereux, Bettina, Schnabel, Dirk, Tiosano, Dov, Häusler, Gabriele, Strom, Tim M.
Vydáno 2010Text -
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Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases Autor Kolarova, Hana, Tan, Jing, Strom, Tim M., Meitinger, Thomas, Wagner, Matias, Klopstock, Thomas
Vydáno 2022Text -
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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 Autor Dayal, Devi, Gupta, Shruti, Kumar, Rakesh, Srinivasan, Radhika, Lorenz-Depiereux, Bettina, Strom, Tim M
Vydáno 2021Text -
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SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities Autor Zech, Michael, Poustka, Katharina, Boesch, Sylvia, Berutti, Riccardo, Strom, Tim M., Grisold, Wolfgang, Poewe, Werner, Winkelmann, Juliane
Vydáno 2017Text -
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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 Autor Umair, Muhammad, Shah, Khadim, Alhaddad, Bader, Haack, Tobias B, Graf, Elisabeth, Strom, Tim M, Meitinger, Thomas, Ahmad, Wasim
Vydáno 2017Text -
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CpG-Methylation Regulates a Class of Epstein-Barr Virus Promoters Autor Bergbauer, Martin, Kalla, Markus, Schmeinck, Anne, Göbel, Christine, Rothbauer, Ulrich, Eck, Sebastian, Benet-Pagès, Anna, Strom, Tim M., Hammerschmidt, Wolfgang
Vydáno 2010Text -
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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 Autor Beygo, Jasmin, Joksic, Ivana, Strom, Tim M, Lüdecke, Hermann-Josef, Kolarova, Julia, Siebert, Reiner, Mikovic, Zeljko, Horsthemke, Bernhard, Buiting, Karin
Vydáno 2016Text -
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Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases Autor Tan, Jing, Wagner, Matias, Stenton, Sarah L., Strom, Tim M., Wortmann, Saskia B., Prokisch, Holger, Meitinger, Thomas, Oexle, Konrad, Klopstock, Thomas
Vydáno 2020Text -
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Corrigendum to “Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases” [EBioMedicine 54 (2020) 102730] Autor Tan, Jing, Wagner, Matias, Stenton, Sarah L., Strom, Tim M., Wortmann, Saskia B., Prokisch, Holger, Meitinger, Thomas, Oexle, Konrad, Klopstock, Thomas
Vydáno 2020Text -
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Time- and compartment-resolved proteome profiling of the extracellular niche in lung injury and repair Autor Schiller, Herbert B, Fernandez, Isis E, Burgstaller, Gerald, Schaab, Christoph, Scheltema, Richard A, Schwarzmayr, Thomas, Strom, Tim M, Eickelberg, Oliver, Mann, Matthias
Vydáno 2015Text -
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A High Resolution Genome-Wide Scan for Significant Selective Sweeps: An Application to Pooled Sequence Data in Laying Chickens Autor Qanbari, Saber, Strom, Tim M., Haberer, Georg, Weigend, Steffen, Gheyas, Almas A., Turner, Frances, Burt, David W., Preisinger, Rudolf, Gianola, Daniel, Simianer, Henner
Vydáno 2012Text -
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Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation Autor Wagenstaller, Janine , Spranger, Stephanie , Lorenz-Depiereux, Bettina , Kazmierczak, Bernd , Nathrath, Michaela , Wahl, Dagmar , Heye, Babett , Gläser, Dieter , Liebscher, Volkmar , Meitinger, Thomas , Strom, Tim M.
Vydáno 2007Text -
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Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage Autor Jansen, Sandra, Aigner, Bernhard, Pausch, Hubert, Wysocki, Michal, Eck, Sebastian, Benet-Pagès, Anna, Graf, Elisabeth, Wieland, Thomas, Strom, Tim M, Meitinger, Thomas, Fries, Ruedi
Vydáno 2013Text -
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Overexpression of UHRF1 promotes silencing of tumor suppressor genes and predicts outcome in hepatoblastoma Autor Beck, Alexander, Trippel, Franziska, Wagner, Alexandra, Joppien, Saskia, Felle, Max, Vokuhl, Christian, Schwarzmayr, Thomas, Strom, Tim M., von Schweinitz, Dietrich, Längst, Gernot, Kappler, Roland
Vydáno 2018Text