Hasil Pencarian - Thomas Meitinger

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  1. 1
    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 oleh Dominik S. Westphal, Dominik S. Westphal, Stephanie Andres, Christine Makowski, Thomas Meitinger, Thomas Meitinger, Julia Hoefele

    Diterbitkan 2018-03-01
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  2. 2
    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... oleh Korbinian Maria Riedhammer, Korbinian Maria Riedhammer, Corinna Siegel, Bader Alhaddad, Carmen Montoya, Reka Kovacs-Nagy, Matias Wagner, Matias Wagner, Matias Wagner, Thomas Meitinger, Thomas Meitinger, Julia Hoefele

    Diterbitkan 2017-11-01
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  3. 3
    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 oleh Theresa Brunet, Milena Radivojkov‐Blagojevic, Peter Lichtner, Verena Kraus, Thomas Meitinger, Matias Wagner

    Diterbitkan 2020-03-01
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  4. 4
    Recent advances in the genetics of atrial fibrillation: from rare and common genetic variants to microRNA signaling

    Recent advances in the genetics of atrial fibrillation: from rare and common genetic variants to microRNA signaling oleh Heidi Estner, Stefan Kääb, Thomas Meitinger, Reza Wakili, Moritz F. Sinner, Sebastian Clauss

    Diterbitkan 2011-12-01
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  5. 5
    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 oleh Hana Kolarova, Jing Tan, Tim M. Strom, Thomas Meitinger, Matias Wagner, Thomas Klopstock

    Diterbitkan 2022-03-01
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  6. 6
    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. oleh Anne Wöhlke, Ute Philipp, Patricia Bock, Andreas Beineke, Peter Lichtner, Thomas Meitinger, Ottmar Distl

    Diterbitkan 2011-10-01
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  7. 7
    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. oleh Arcangela Iuso, Ody C M Sibon, Matteo Gorza, Katharina Heim, Cristina Organisti, Thomas Meitinger, Holger Prokisch

    Diterbitkan 2014-01-01
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  8. 8
    Mitochondrial genetic variants identified to be associated with BMI in adults.

    Mitochondrial genetic variants identified to be associated with BMI in adults. oleh Antònia Flaquer, Clemens Baumbach, Jennifer Kriebel, Thomas Meitinger, Annette Peters, Melanie Waldenberger, Harald Grallert, Konstantin Strauch

    Diterbitkan 2014-01-01
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  9. 9
    New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center

    New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center oleh Gwendolyn Gramer, Saskia B. Wortmann, Junmin Fang-Hoffmann, Dirk Kohlmüller, Jürgen G. Okun, Holger Prokisch, Thomas Meitinger, Georg F. Hoffmann

    Diterbitkan 2024-02-01
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  10. 10
    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] oleh Jing Tan, Matias Wagner, Sarah L. Stenton, Tim M. Strom, Saskia B. Wortmann, Holger Prokisch, Thomas Meitinger, Konrad Oexle, Thomas Klopstock

    Diterbitkan 2020-11-01
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  11. 11
    Phenotypic variability of GABRA1‐related epilepsy in monozygotic twins

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

    Diterbitkan 2019-11-01
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  12. 12
    Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases

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

    Diterbitkan 2020-04-01
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  13. 13
    Mitochondrial GWA Analysis of Lipid Profile Identifies Genetic Variants to Be Associated with HDL Cholesterol and Triglyceride Levels.

    Mitochondrial GWA Analysis of Lipid Profile Identifies Genetic Variants to Be Associated with HDL Cholesterol and Triglyceride Levels. oleh Antònia Flaquer, Susanne Rospleszcz, Eva Reischl, Sonja Zeilinger, Holger Prokisch, Thomas Meitinger, Christa Meisinger, Annette Peters, Melanie Waldenberger, Harald Grallert, Konstantin Strauch

    Diterbitkan 2015-01-01
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  14. 14
    Generation of a human induced pluripotent stem cell line (HMGUi002-A) from a healthy male individual

    Generation of a human induced pluripotent stem cell line (HMGUi002-A) from a healthy male individual oleh Xianming Wang, Andrzej R. Malinowski, Julia Beckenbauer, Johanna Siehler, Anna Blöchinger, Thomas Meitinger, Hans-Ulrich Häring, Harald Staiger, Ingo Burtscher, Heiko Lickert

    Diterbitkan 2019-08-01
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  15. 15
    Generation of a human induced pluripotent stem cell (iPSC) line from a patient carrying a P33T mutation in the PDX1 gene

    Generation of a human induced pluripotent stem cell (iPSC) line from a patient carrying a P33T mutation in the PDX1 gene oleh Xianming Wang, Shen Chen, Ingo Burtscher, Michael Sterr, Anja Hieronimus, Fausto Machicao, Harald Staiger, Hans-Ulrich Häring, Gabriele Lederer, Thomas Meitinger, Heiko Lickert

    Diterbitkan 2016-09-01
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  16. 16
    Generation of a human induced pluripotent stem cell (iPSC) line from a patient with family history of diabetes carrying a C18R mutation in the PDX1 gene

    Generation of a human induced pluripotent stem cell (iPSC) line from a patient with family history of diabetes carrying a C18R mutation in the PDX1 gene oleh Xianming Wang, Shen Chen, Ingo Burtscher, Michael Sterr, Anja Hieronimus, Fausto Machicao, Harald Staiger, Hans-Ulrich Häring, Gabriele Lederer, Thomas Meitinger, Heiko Lickert

    Diterbitkan 2016-09-01
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  17. 17
    Biallelic mutations in PIGP cause developmental and epileptic encephalopathy

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

    Diterbitkan 2019-05-01
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  18. 18
    A systematic evaluation of short tandem repeats in lipid candidate genes: riding on the SNP-wave.

    A systematic evaluation of short tandem repeats in lipid candidate genes: riding on the SNP-wave. oleh Claudia Lamina, Margot Haun, Stefan Coassin, Anita Kloss-Brandstätter, Christian Gieger, Annette Peters, Harald Grallert, Konstantin Strauch, Thomas Meitinger, Lyudmyla Kedenko, Bernhard Paulweber, Florian Kronenberg

    Diterbitkan 2014-01-01
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  19. 19
    A genome-wide analysis of DNA methylation identifies a novel association signal for Lp(a) concentrations in the LPA promoter.

    A genome-wide analysis of DNA methylation identifies a novel association signal for Lp(a) concentrations in the LPA promoter. oleh Stefan Coassin, Natascha Hermann-Kleiter, Margot Haun, Simone Wahl, Rory Wilson, Bernhard Paulweber, Sonja Kunze, Thomas Meitinger, Konstantin Strauch, Annette Peters, Melanie Waldenberger, Florian Kronenberg, Claudia Lamina

    Diterbitkan 2020-01-01
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  20. 20
    Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.

    Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum. oleh Christian Gieger, Ludwig Geistlinger, Elisabeth Altmaier, Martin Hrabé de Angelis, Florian Kronenberg, Thomas Meitinger, Hans-Werner Mewes, H-Erich Wichmann, Klaus M Weinberger, Jerzy Adamski, Thomas Illig, Karsten Suhre

    Diterbitkan 2008-11-01
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