Scientific Publications Search Search Author Release Date Research Group Search Sort by RelevanceFrom A-ZAuthored onDate/Time RangeRelease date Order AscDesc Adami, Eleonora Dr. (1) Bähring, Sylvia Dr. (1) Birchmeier, Walter Prof. Dr. (1) Chen, Wei Prof. Dr. (1) Fielitz, Jens Dr. (1) Gotthardt, Michael Prof. Dr. (3) Hübner, Norbert Prof. Dr. (22) Hummel, Oliver (5) Kirchner, Marieluise Dr. (1) Klaus-Bergmann, Alexandra Dr. (1) Landthaler, Markus Prof. Dr. (1) Lee, Young-Ae Prof. Dr. (4) Luft, Friedrich Prof. Dr. (1) Marenholz, Ingo Dr. (2) Müller, Marion (1) Patone, Giannino Dr. (1) Perrot, Andreas (1) Radke, Michael Dr. (2) Rajewsky, Nikolaus Prof. Dr. (1) Saar, Kathrin Dr. (10) Schmidt-Krüger, Vanessa Dr. (1) Selbach, Matthias Prof. Dr. (1) Spagnoli, Francesca Dr. (1) Spuler, Simone Prof. (1) Willnow, Thomas Prof. Dr. (1) (-) Klaassen, Sabine Prof. Dr. med. (1) (-) Lewin, Gary Prof. Dr. (1) (-) Maatz, Henrike Dr. (2) 2000 (2) 2002 (1) 2004 (7) 2005 (7) 2006 (6) 2007 (6) 2008 (4) 2010 (6) 2011 (1) (-) 2012 (6) 2013 (3) (-) 2014 (5) 2015 (6) 2016 (2) 2017 (7) 2018 (4) 2019 (4) 2020 (8) 2021 (6) 2022 (4) 2023 (3) 2024 (2) Cellular Neurosciences (1) Developmental Biology / Signal Transduction (3) (-) Genetics and Genomics of Cardiovascular Diseases (11) Genetics of Congenital Heart Disease (7) Immune Regulation and Cancer (1) Mathematical Modelling of Cellular Processes (1) Molecular Physiology of Somatic Sensation (20) Neural Circuits and Behaviour (1) Proteome Dynamics (2) RNA Biology and Posttranscriptional Regulation (1) Structural Biology of Membrane-Associated Processes (2) Systems Biology of Gene Regulatory Elements (1) Translational Cardiology and Functional Genomics (2) 11 Results: Active Filter: Klaassen, Sabine Prof. Dr. med.Lewin, Gary Prof. Dr.Maatz, Henrike Dr.Genetics and Genomics of Cardiovascular Diseases20122014 Sort: Result score Newest to oldest Oldest to newest February 01, 2012 / Epilepsia Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies C. Leu C.G.F. de Kovel F. Zara P. Striano M. Pezzella A. Robbiano A. Bianchi F. Bisulli A. Coppola A.T. Giallonardo F. Beccaria D.K. Trenite D. Lindhout V. Gaus B. Schmitz D. Janz Y.G. Weber F. Becker H. Lerche A.A. Kleefuss-Lie K. Hallman W.S. Kunz C.E. Elger H. Muhle U. Stephani R.S. Moller H. Hjalgrim S. Mullen I.E. Scheffer S.F. Berkovic K.V. Everett M.R. Gardiner C. Marini R. Guerrini A.E. Lehesjoki A. Siren R. Nabbout S. Baulac E. Leguern J.M. Serratosa F. Rosenow M. Feucht I. Unterberger A. Covanis A. Suls S. Weckhuysen R. Kaneva H. Caglayan D. Turkdogan B. Baykan N. Bebek U. Ozbek A. Hempelmann H. Schulz F. Rueschendorf H. Trucks P. Nuernberg G. Avanzini B.P.C. Koeleman T. Sander June 08, 2012 / Invest Ophthalmol Vis Sci Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy M.N. Preising N. Hausotter-Will M.C. Solbach C. Friedburg F. Rueschendorf B. Lorenz December 15, 2012 / Hum Mol Genet Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 M. Steffens C. Leu A.K. Ruppert F. Zara P. Striano A. Robbiano G. Capovilla P. Tinuper A. Gambardella A. Bianchi A. La Neve G. Crichiutti C.G.F. de Kovel D. Kasteleijn-Nolst Trenite G.J. de Haan D. Lindhout V. Gaus B. Schmitz D. Janz Y.G. Weber F. Becker H. Lerche B.J. Steinhoff A.A. Kleefuss-Lie W.S. Kunz R. Surges C.E. Elger H. Muhle S. von Spiczak P. Ostertag I. Helbig U. Stephani R.S. Moller H. Hjalgrim L.M. Dibbens S. Bellows K. Oliver S. Mullen I.E. Scheffer S.F. Berkovic K.V. Everett M.R. Gardiner C. Marini R. Guerrini A.E. Lehesjoki A. Siren M. Guipponi A. Malafosse P. Thomas R. Nabbout S. Baulac E. Leguern R. Guerrero J.M. Serratosa P.S. Reif F. Rosenow M. Mörzinger M. Feucht F. Zimprich C. Kapser C.J. Schankin A. Suls K. Smets P. De Jonghe A. Jordanova H. Caglayan Z. Yapici D.A. Yalcin B. Baykan N. Bebek U. Ozbek C. Gieger H.E. Wichmann T. Balschun D. Ellinghaus A. Franke C. Meesters T Becker T.F. Wienker A. Hempelmann H. Schulz F. Rueschendorf M. Leber S.M. Pauck H. Trucks M.R. Toliat P. Nuernberg G. Avanzini B.P. Koeleman T. Sander January 01, 2014 / Gut Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α M.A. Brooke H.J. Longhurst V. Plagnol N.S. Kirkby J.A. Mitchell F. Rüschendorf T.D. Warner D.P. Kelsell T.T. MacDonald February 10, 2012 / Am J Hum Genet Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss M. Baumann C. Giunta B. Krabichler F. Rueschendorf N. Zoppi M. Colombi R.E. Bittner S. Quijano-Roy F. Muntoni S. Cirak G. Schreiber Y. Zou Y. Hu N.B. Romero R.Y. Carlier A. Amberger A. Deutschmann V. Straub M. Rohrbach B. Steinmann K. Rostasy D. Karall C.G. Boennemann J. Zschocke C. Fauth May 01, 2014 / Leukemia Inherited susceptibility to pre B-ALL caused by germline transmission of PAX5 c.547G>A F. Auer F. Rueschendorf M. Gombert P. Husemann S. Ginzel S. Izraeli M. Harit M. Weintraub O.Y. Weinstein I. Lerer P. Stepensky A. Borkhardt J. Hauer May 01, 2012 / Nat Med RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing W. Guo S. Schafer M.L. Greaser M.H. Radke M. Liss T. Govindarajan H. Maatz H. Schulz S.E. Lincoln A.M. Parrish V. Dauksaite P. Vakeel S. Klaassen B. Gerull L. Thierfelder V. Regitz-Zagrosek T.A. Hacker K.W. Saupe G.W. Dec P.T. Ellinor C.A. MacRae B. Spallek R. Fischer A. Perrot C. Ozcelik K. Saar N. Hubner M. Gotthardt May 01, 2012 / PLoS Biol A genetic basis for mechanosensory traits in humans H. Frenzel J. Bohlender K. Pinsker B. Wohlleben J. Tank S.G. Lechner D. Schiska T. Jaijo F. Rueschendorf K. Saar J. Jordan J.M. Millan M. Gross G.R. Lewin October 01, 2014 / Diabetes Recessive mutations in PCBD1 cause a new type of early-onset diabetes D. Simaite J. Kofent M. Gong F. Rüschendorf S. Jia P. Arn K. Bentler C. Ellaway P. Kühnen G.F. Hoffmann N. Blau F.M. Spagnoli N. Hübner K. Raile August 01, 2014 / J Clin Invest RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing H. Maatz M. Jens M. Liss S. Schafer M. Heinig M. Kirchner E. Adami C. Rintisch V. Dauksaite M.H. Radke M. Selbach P.J.R. Barton S.A. Cook N. Rajewsky M. Gotthardt M. Landthaler N. Hubner Pagination Current page 1 Page 2 Next page Next › Last page Last »
February 01, 2012 / Epilepsia Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies C. Leu C.G.F. de Kovel F. Zara P. Striano M. Pezzella A. Robbiano A. Bianchi F. Bisulli A. Coppola A.T. Giallonardo F. Beccaria D.K. Trenite D. Lindhout V. Gaus B. Schmitz D. Janz Y.G. Weber F. Becker H. Lerche A.A. Kleefuss-Lie K. Hallman W.S. Kunz C.E. Elger H. Muhle U. Stephani R.S. Moller H. Hjalgrim S. Mullen I.E. Scheffer S.F. Berkovic K.V. Everett M.R. Gardiner C. Marini R. Guerrini A.E. Lehesjoki A. Siren R. Nabbout S. Baulac E. Leguern J.M. Serratosa F. Rosenow M. Feucht I. Unterberger A. Covanis A. Suls S. Weckhuysen R. Kaneva H. Caglayan D. Turkdogan B. Baykan N. Bebek U. Ozbek A. Hempelmann H. Schulz F. Rueschendorf H. Trucks P. Nuernberg G. Avanzini B.P.C. Koeleman T. Sander
June 08, 2012 / Invest Ophthalmol Vis Sci Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy M.N. Preising N. Hausotter-Will M.C. Solbach C. Friedburg F. Rueschendorf B. Lorenz
December 15, 2012 / Hum Mol Genet Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 M. Steffens C. Leu A.K. Ruppert F. Zara P. Striano A. Robbiano G. Capovilla P. Tinuper A. Gambardella A. Bianchi A. La Neve G. Crichiutti C.G.F. de Kovel D. Kasteleijn-Nolst Trenite G.J. de Haan D. Lindhout V. Gaus B. Schmitz D. Janz Y.G. Weber F. Becker H. Lerche B.J. Steinhoff A.A. Kleefuss-Lie W.S. Kunz R. Surges C.E. Elger H. Muhle S. von Spiczak P. Ostertag I. Helbig U. Stephani R.S. Moller H. Hjalgrim L.M. Dibbens S. Bellows K. Oliver S. Mullen I.E. Scheffer S.F. Berkovic K.V. Everett M.R. Gardiner C. Marini R. Guerrini A.E. Lehesjoki A. Siren M. Guipponi A. Malafosse P. Thomas R. Nabbout S. Baulac E. Leguern R. Guerrero J.M. Serratosa P.S. Reif F. Rosenow M. Mörzinger M. Feucht F. Zimprich C. Kapser C.J. Schankin A. Suls K. Smets P. De Jonghe A. Jordanova H. Caglayan Z. Yapici D.A. Yalcin B. Baykan N. Bebek U. Ozbek C. Gieger H.E. Wichmann T. Balschun D. Ellinghaus A. Franke C. Meesters T Becker T.F. Wienker A. Hempelmann H. Schulz F. Rueschendorf M. Leber S.M. Pauck H. Trucks M.R. Toliat P. Nuernberg G. Avanzini B.P. Koeleman T. Sander
January 01, 2014 / Gut Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α M.A. Brooke H.J. Longhurst V. Plagnol N.S. Kirkby J.A. Mitchell F. Rüschendorf T.D. Warner D.P. Kelsell T.T. MacDonald
February 10, 2012 / Am J Hum Genet Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss M. Baumann C. Giunta B. Krabichler F. Rueschendorf N. Zoppi M. Colombi R.E. Bittner S. Quijano-Roy F. Muntoni S. Cirak G. Schreiber Y. Zou Y. Hu N.B. Romero R.Y. Carlier A. Amberger A. Deutschmann V. Straub M. Rohrbach B. Steinmann K. Rostasy D. Karall C.G. Boennemann J. Zschocke C. Fauth
May 01, 2014 / Leukemia Inherited susceptibility to pre B-ALL caused by germline transmission of PAX5 c.547G>A F. Auer F. Rueschendorf M. Gombert P. Husemann S. Ginzel S. Izraeli M. Harit M. Weintraub O.Y. Weinstein I. Lerer P. Stepensky A. Borkhardt J. Hauer
May 01, 2012 / Nat Med RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing W. Guo S. Schafer M.L. Greaser M.H. Radke M. Liss T. Govindarajan H. Maatz H. Schulz S.E. Lincoln A.M. Parrish V. Dauksaite P. Vakeel S. Klaassen B. Gerull L. Thierfelder V. Regitz-Zagrosek T.A. Hacker K.W. Saupe G.W. Dec P.T. Ellinor C.A. MacRae B. Spallek R. Fischer A. Perrot C. Ozcelik K. Saar N. Hubner M. Gotthardt
May 01, 2012 / PLoS Biol A genetic basis for mechanosensory traits in humans H. Frenzel J. Bohlender K. Pinsker B. Wohlleben J. Tank S.G. Lechner D. Schiska T. Jaijo F. Rueschendorf K. Saar J. Jordan J.M. Millan M. Gross G.R. Lewin
October 01, 2014 / Diabetes Recessive mutations in PCBD1 cause a new type of early-onset diabetes D. Simaite J. Kofent M. Gong F. Rüschendorf S. Jia P. Arn K. Bentler C. Ellaway P. Kühnen G.F. Hoffmann N. Blau F.M. Spagnoli N. Hübner K. Raile
August 01, 2014 / J Clin Invest RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing H. Maatz M. Jens M. Liss S. Schafer M. Heinig M. Kirchner E. Adami C. Rintisch V. Dauksaite M.H. Radke M. Selbach P.J.R. Barton S.A. Cook N. Rajewsky M. Gotthardt M. Landthaler N. Hubner