Хайлтын үр дүнгүүд - Strom, Tim M.

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах