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

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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... by 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

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

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

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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. by Anne Wöhlke, Ute Philipp, Patricia Bock, Andreas Beineke, Peter Lichtner, Thomas Meitinger, Ottmar Distl

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Impairment of Drosophila orthologs of the human orphan protein C19orf12 induces bang sensitivity and neurodegeneration. by Arcangela Iuso, Ody C M Sibon, Matteo Gorza, Katharina Heim, Cristina Organisti, Thomas Meitinger, Holger Prokisch

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

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

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

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

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

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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 by Xianming Wang, Shen Chen, Ingo Burtscher, Michael Sterr, Anja Hieronimus, Fausto Machicao, Harald Staiger, Hans-Ulrich Häring, Gabriele Lederer, Thomas Meitinger, Heiko Lickert

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Biallelic mutations in PIGP cause developmental and epileptic encephalopathy by 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

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A systematic evaluation of short tandem repeats in lipid candidate genes: riding on the SNP-wave. by 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

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Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum. by 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

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Association of circulating MR-proADM with all-cause and cardiovascular mortality in the general population: Results from the KORA F4 cohort study. by Christina Gar, Barbara Thorand, Christian Herder, Chaterina Sujana, Margit Heier, Christa Meisinger, Annette Peters, Wolfgang Koenig, Wolfgang Rathmann, Michael Roden, Michael Stumvoll, Haifa Maalmi, Thomas Meitinger, Holger Then, Jochen Seissler, Cornelia Then

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Association of renin and aldosterone with glucose metabolism in a Western European population: the KORA F4/FF4 study by Barbara Thorand, Christa Meisinger, Wolfgang Koenig, Annette Peters, Margit Heier, Wolfgang Rathmann, Michael Roden, Christian Herder, Thomas Meitinger, Michael Stumvoll, Cornelia Then, Holger Then, Jochen Seissler, Haifa Maalmi, Martin Bidlingmaier, Katrin Ritzel, Chaterina Sujana, Martin Reincke

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Extensive natural variation for cellular hydrogen peroxide release is genetically controlled. by Homa Attar, Karen Bedard, Eugenia Migliavacca, Maryline Gagnebin, Yann Dupré, Patrick Descombes, Christelle Borel, Samuel Deutsch, Holger Prokisch, Thomas Meitinger, Divya Mehta, Erich Wichmann, Jean Maurice Delabar, Emmanouil T Dermitzakis, Karl-Heinz Krause, Stylianos E Antonarakis

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Point mutations in the PDX1 transactivation domain impair human β-cell development and function by Xianming Wang, Michael Sterr, Ansarullah, Ingo Burtscher, Anika Böttcher, Julia Beckenbauer, Johanna Siehler, Thomas Meitinger, Hans-Ulrich Häring, Harald Staiger, Filippo M. Cernilogar, Gunnar Schotta, Martin Irmler, Johannes Beckers, Christopher V.E. Wright, Mostafa Bakhti, Heiko Lickert

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Discovery of sexual dimorphisms in metabolic and genetic biomarkers. by Kirstin Mittelstrass, Janina S Ried, Zhonghao Yu, Jan Krumsiek, Christian Gieger, Cornelia Prehn, Werner Roemisch-Margl, Alexey Polonikov, Annette Peters, Fabian J Theis, Thomas Meitinger, Florian Kronenberg, Stephan Weidinger, Heinz Erich Wichmann, Karsten Suhre, Rui Wang-Sattler, Jerzy Adamski, Thomas Illig

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