Rezultati - Meitinger, Thomas

STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families od Wjst, Matthias, Lichtner, Peter, Meitinger, Thomas, Grimbacher, Bodo

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MAP2 – A Candidate Gene for Epilepsy, Developmental Delay and Behavioral Abnormalities in a Patient With Microdeletion 2q34 od Westphal, Dominik S., Andres, Stephanie, Makowski, Christine, Meitinger, Thomas, Hoefele, Julia

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The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase od Linari, Marco, Ueffing, Marius, Manson, Forbes, Wright, Alan, Meitinger, Thomas, Becker, Jörg

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Genome-wide association studies of atrial fibrillation: past, present, and future od Sinner, Moritz F., Ellinor, Patrick T., Meitinger, Thomas, Benjamin, Emelia J., Kääb, Stefan

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Effect of genome-wide simultaneous hypotheses tests on the discovery rate od Eyheramendy, Susana, Gieger, Christian, Laan, Maris, Illig, Thomas, Meitinger, Thomas, Wichmann, Erich

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

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

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A One Base Pair Deletion in the Canine ATP13A2 Gene Causes Exon Skipping and Late-Onset Neuronal Ceroid Lipofuscinosis in the Tibetan Terrier od Wöhlke, Anne, Philipp, Ute, Bock, Patricia, Beineke, Andreas, Lichtner, Peter, Meitinger, Thomas, Distl, Ottmar

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

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

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Impairment of Drosophila Orthologs of the Human Orphan Protein C19orf12 Induces Bang Sensitivity and Neurodegeneration od Iuso, Arcangela, Sibon, Ody C. M., Gorza, Matteo, Heim, Katharina, Organisti, Cristina, Meitinger, Thomas, Prokisch, Holger

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Mitochondrial Genetic Variants Identified to Be Associated with BMI in Adults od Flaquer, Antònia, Baumbach, Clemens, Kriebel, Jennifer, Meitinger, Thomas, Peters, Annette, Waldenberger, Melanie, Grallert, Harald, Strauch, Konstantin

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

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Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia od Stöber, Gerald, Kohlmann, Bernd, Siekiera, Markus, Rubie, Claudia, Gawlik, Micha, Möller-Ehrlich, Kerstin, Meitinger, Thomas, Bettecken, Thomas

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

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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 od Umair, Muhammad, Shah, Khadim, Alhaddad, Bader, Haack, Tobias B, Graf, Elisabeth, Strom, Tim M, Meitinger, Thomas, Ahmad, Wasim

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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... od Riedhammer, Korbinian Maria, Siegel, Corinna, Alhaddad, Bader, Montoya, Carmen, Kovacs-Nagy, Reka, Wagner, Matias, Meitinger, Thomas, Hoefele, Julia

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Phenotypic variability of GABRA1‐related epilepsy in monozygotic twins od 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 od 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] od 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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