Resultados de procura - Strom, Tim M.

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso