Søgeresultater - Meitinger, Thomas 

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  1. 1
    STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families

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

    Udgivet 2009
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  2. 2
    MAP2 – A Candidate Gene for Epilepsy, Developmental Delay and Behavioral Abnormalities in a Patient With Microdeletion 2q34

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

    Udgivet 2018
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  3. 3
    The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase

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

    Udgivet 1999
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  4. 4
    Genome-wide association studies of atrial fibrillation: past, present, and future

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

    Udgivet 2011
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  5. 5
    Effect of genome-wide simultaneous hypotheses tests on the discovery rate

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

    Udgivet 2011
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  6. 6
    Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorder

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

    Udgivet 2020
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  7. 7
    Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases

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

    Udgivet 2022
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  8. 8
    A One Base Pair Deletion in the Canine ATP13A2 Gene Causes Exon Skipping and Late-Onset Neuronal Ceroid Lipofuscinosis in the Tibetan Terrier

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

    Udgivet 2011
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  9. 9
    Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing

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

    Udgivet 2019
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  10. 10
    Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discovery

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

    Udgivet 2009
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  11. 11
    Impairment of Drosophila Orthologs of the Human Orphan Protein C19orf12 Induces Bang Sensitivity and Neurodegeneration

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

    Udgivet 2014
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  12. 12
    Mitochondrial Genetic Variants Identified to Be Associated with BMI in Adults

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

    Udgivet 2014
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  13. 13
    Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis

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

    Udgivet 2020
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  14. 14
    Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia

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

    Udgivet 2005
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  15. 15
    A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy

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

    Udgivet 2020
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  16. 16
    Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb

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

    Udgivet 2017
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  17. 17
    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 Hypoplastic Clavicles

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

    Udgivet 2017
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  18. 18
    Phenotypic variability of GABRA1‐related epilepsy in monozygotic twins

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

    Udgivet 2019
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  19. 19
    Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases

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

    Udgivet 2020
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  20. 20
    Corrigendum to “Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases” [EBioMedicine 54 (2020) 102730]

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

    Udgivet 2020
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