Resultados da pesquisa - Wagner, Matias

Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorder Por Brunet, Theresa, Radivojkov‐Blagojevic, Milena, Lichtner, Peter, Kraus, Verena, Meitinger, Thomas, Wagner, Matias

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The m.9143T>C Variant: Recurrent Infections and Immunodeficiency as an Extension of the Phenotypic Spectrum in MT-ATP6 Mutations? Por Lehmann Urban, Diana, Motlagh Scholle, Leila, Wagner, Matias, Ludolph, Albert C., Rosenbohm, Angela

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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

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Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing Por Krenn, Martin, Milenkovic, Ivan, Eckstein, Gertrud, Zimprich, Fritz, Meitinger, Thomas, Foki, Thomas, Wagner, Matias

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Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis Por Radelfahr, Florentine, Riedhammer, Korbinian M., Keidel, Leonie F., Gramer, Gwendolyn, Meitinger, Thomas, Klopstock, Thomas, Wagner, Matias

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A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy Por Brugger, Melanie, Becker‐Dettling, Fiona, Brunet, Theresa, Strom, Tim, Meitinger, Thomas, Lurz, Eberhard, Borggraefe, Ingo, Wagner, Matias

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Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and... Por Riedhammer, Korbinian Maria, Siegel, Corinna, Alhaddad, Bader, Montoya, Carmen, Kovacs-Nagy, Reka, Wagner, Matias, Meitinger, Thomas, Hoefele, Julia

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Teaching case 1-2020 – ADDENDUM: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to a novel CSF1R mutation – An unusual cause of dementia Por Klotz, Sigrid, Riederer, Franz, Hergovich, Nora, Schlager, Thomas, Steinkellner, Lara, Fertl, Elisabeth, Baumgartner, Christoph, Wagner, Matias, Zimprich, Alexander, Gelpi, Ellen

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Phenotypic variability of GABRA1‐related epilepsy in monozygotic twins Por Krenn, Martin, Ernst, Margot, Tomschik, Matthias, Treven, Marco, Wagner, Matias, Westphal, Dominik S., Meitinger, Thomas, Pataraia, Ekaterina, Zimprich, Fritz, Aull‐Watschinger, Susanne

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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

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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

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Cognitive performance and behavior across idiopathic/genetic epilepsies in children and adolescents Por Moorhouse, Frederik Jan, Cornell, Sonia, Gerstl, Lucia, Tacke, Moritz, Roser, Timo, Heinen, Florian, Bonfert, Michaela, von Stülpnagel, Celina, Wagner, Matias, Borggraefe, Ingo

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Biallelic mutations in PIGP cause developmental and epileptic encephalopathy Por Krenn, Martin, Knaus, Alexej, Westphal, Dominik S., Wortmann, Saskia B., Polster, Tilman, Woermann, Friedrich G., Karenfort, Michael, Mayatepek, Ertan, Meitinger, Thomas, Wagner, Matias, Distelmaier, Felix

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A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype Por Vogel, Florian D., Krenn, Martin, Westphal, Dominik S., Graf, Elisabeth, Wagner, Matias, Leiz, Steffen, Koniuszewski, Filip, Augé‐Stock, Maximilian, Kramer, Georg, Scholze, Petra, Ernst, Margot

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Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review Por Kotzaeridou, Urania, Young-Baird, Sara K., Suckow, Vanessa, Thornburg, Alexis G., Wagner, Matias, Harting, Inga, Christ, Stine, Strom, Tim, Dever, Thomas E., Kalscheuer, Vera M.

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Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS Por Braun, Frederik, Hentschel, Andreas, Sickmann, Albert, Marteau, Theodore, Hertel, Swantje, Förster, Fabian, Prokisch, Holger, Wagner, Matias, Wortmann, Saskia, Della Marina, Adela, Kölbel, Heike, Roos, Andreas, Schara-Schmidt, Ulrike

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Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS Por Braunisch, Matthias Christoph, Riedhammer, Korbinian Maria, Herr, Pierre-Maurice, Draut, Sarah, Günthner, Roman, Wagner, Matias, Weidenbusch, Marc, Lungu, Adrian, Alhaddad, Bader, Renders, Lutz, Strom, Tim M., Heemann, Uwe, Meitinger, Thomas, Schmaderer, Christoph, Hoefele, Julia

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Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum Por Krenn, Martin, Salzer, Elisabeth, Simonitsch-Klupp, Ingrid, Rath, Jakob, Wagner, Matias, Haack, Tobias B., Strom, Tim M., Schänzer, Anne, Kilimann, Manfred W., Schmidt, Ralf L. J., Schmetterer, Klaus G., Zimprich, Alexander, Boztug, Kaan, Hahn, Andreas, Zimprich, Fritz

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Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1 Por Appelhof, Bart, Wagner, Matias, Hoefele, Julia, Heinze, Anja, Roser, Timo, Koch-Hogrebe, Margarete, Roosendaal, Stefan D., Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Torti, Erin, Houlden, Henry, Maroofian, Reza, Rajabi, Farrah, Sticht, Heinrich, Baas, Frank, Wieczorek, Dagmar, Jamra, Rami Abou

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CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph Por Peng, Chengyao, Dieck, Simon, Schmid, Alexander, Ahmad, Ashar, Knaus, Alexej, Wenzel, Maren, Mehnert, Laura, Zirn, Birgit, Haack, Tobias, Ossowski, Stephan, Wagner, Matias, Brunet, Theresa, Ehmke, Nadja, Danyel, Magdalena, Rosnev, Stanislav, Kamphans, Tom, Nadav, Guy, Fleischer, Nicole, Fröhlich, Holger, Krawitz, Peter

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