Wissenschaftliche Publikationen Suche Suche Autor/in Forschungsgruppe Veröffentlichungsdatum Suchen Sortieren nach RelevanceFrom A-ZAuthored onDate/Time RangeRelease date Reihenfolge AufsteigendAbsteigend Adami, Eleonora Dr. (3) Akalin, Altuna Dr. (9) Alenina, Natalia Dr. (14) Annibale, Paolo Dr. (3) Bader, Michael Prof. Dr. (22) Bartolomaeus, Hendrik (3) Baumann, Elisabeth (1) Bernert, Carola (1) Beule, Dieter Dr. (7) Birchmeier, Walter Prof. Dr. (6) Birchmeier-Kohler, Carmen Prof. Dr. (6) Birol, Melissa Dr. (1) Blachut, Susanne (2) Blankenstein, Thomas Prof. Dr. (6) Blume, Alexander Dr. (1) Bock-Bierbaum, Tobias Dr. (2) Braeuning, Caroline (1) Cakmak-Görür, Nese Dr. (1) Cano Rincon, Elena Dr. (1) Chekulaeva, Marina Dr. (3) Chen, Wei Prof. Dr. (10) Chu, Van Trung Dr. (6) Conrad, Thomas Dr. (1) Coralluzzo, Violeta (1) Coscia, Fabian Dr. (3) Dahlmann, Mathias Dr. (2) Daniel, Peter Prof. Dr. (1) Dartsch, Josephine (3) Daumke, Oliver Prof. Dr. (9) Dechend, Ralf Priv. Doz. (16) de la Rosa, Kathrin Prof. Dr. (1) Dhamodaran, Arunraj (1) Diebolder, Christoph Dr. (4) Diecke, Sebastian Dr. (5) Di Virgilio, Michela Prof. Dr. (1) Dräger, Alexander (2) Escobar Fernandez, Helena Dr. (1) Falcke, Martin Prof. Dr. (2) Feinkohl, Insa Prof. Dr. (2) Fielitz, Jens Dr. (7) Fischer, Cornelius Dr. (3) Forslund, Sofia Dr. (8) Franke, Vedran Dr. (4) Fritsche, Raphaela Dr. (3) Gargiulo, Gaetano Dr. (1) Geisberger, Sabrina Yasmin Dr. (1) Gerhardt, Holger Prof. Dr. (7) Ghanbari, Mahsa Dr. (1) Giese, Wolfgang Dr. (1) Gotthardt, Michael Prof. Dr. (7) Graf, Robin Dr. (3) Grosswendt, Stefanie Dr. (1) Haase, Nadine Dr. (5) Hänig, Christian (1) Haucke, Volker Professor (2) Hedtrich, Sarah Prof. Dr. (11) Heinemann, Udo Prof. Dr. (4) Henssen, Anton Prof. Dr. med. (5) Herse, Florian PD Dr. (7) Herzog, Sergej (1) Hinze, Christian Dr. med. Dipl.-Math. (2) Hirsekorn, Antje (2) Hofstätter, Maria (1) Höpken, Uta Elisabeth PD Dr. (2) Hübner, Norbert Prof. Dr. (10) Hummel, Oliver (2) Infante Duarte, Carmen (6) Ittermann, Bernd Dr. (1) Ivics, Zoltan Dr. (1) Izsvak, Zsuzsanna Dr. (4) Janke, Jürgen Dr. (2) Jarquin Diaz, Victor Hugo Dr. (1) Jentsch, Thomas Prof. Dr. (2) Jeuthe, Sarah Dr. (1) Jouhanneau, Jean-Sebastien Dr. (1) Junker, Jan Philipp Prof. Dr. (2) Jüttner, Rene Dr. (4) Kainmüller, Dagmar Prof. Dr. (3) Kaminski, Michael Dr. (2) Kammertöns, Thomas Dr. (2) Kastelic, Nicolai (1) Keller, Ulrich Dr. med. (1) Kempa, Stefan Dr. (7) Kettenmann, Helmut Prof. Dr. (6) Kettritz, Ralph Prof. Dr. (4) Kieshauer, Janine (1) Kirchner, Marieluise Dr. (4) Kirwan, Jennifer Dr. (7) Klaassen, Sabine Prof. Dr. med. (5) Klußmann, Enno PD Dr. (5) Kobelt, Dennis Dr. (2) Kocks, Christine Dr. (3) Kowenz-Leutz, Elisabeth Dr. (1) Kräker, Kristin Dr. (5) Ku, Min-Chi Dr. (1) Kudryashev, Mikhail Prof. Dr. (5) Kühn, Ralf Dr. (8) Kunz, Severine Dr. (3) Lahmann, Ines Dr. (3) Landthaler, Markus Prof. Dr. (5) Lee, Young-Ae Prof. Dr. (2) Leutz, Achim Prof. Dr. (2) Lewin, Gary Prof. Dr. (1) Lindberg, Eric Lars-Helge (1) Lisewski, Ulrike Dr. (1) Lisowski, Pawel Dr. (3) Löber, Ulrike Dr. (1) Lohse, Martin Prof. Dr. (4) Lorenz, Felix Dr. (2) Ludwig, Leif S. Dr. med. Dr. rer. nat. (6) Luft, Friedrich Prof. Dr. (10) Lupianez Garcia, Dario Jesus Dr. (2) Maatz, Henrike Dr. (1) Maglione, Marta (3) Mahmoodzadeh, Shokoufeh PD Dr. (2) Mais, Lisa (1) Malchin, Victoria (1) Marenholz, Ingo Dr. (1) Marg, Andreas Dr. (1) Marko, Lajos Dr. (10) Mastrobuoni, Guido Dr. (2) Mathas, Stephan Dr. (2) Meier, Katja (1) Merks, Anne Margarete Dr. (1) Mertins, Philipp Dr. (7) Metzger, Jakob Johannes Dr. (2) Meyer, Irmtraud Margret Prof. Dr. (3) Migueles Lozano, Oscar Arturo Dr. (1) Millward, Jason Dr. (2) Mittnenzweig, Markus Dr. (1) Müller, Dominik Prof. Dr. (16) Müller, Marion (1) Müthel, Stefanie (2) Na, Il-Kang Dr. (4) Nazare, Marc (5) Neubert, Wilhelm (1) Neuendorf, Nancy (1) Niendorf, Thoralf Prof. Dr. (17) Nimptsch, Katharina Dr. (5) Noel, Jeffrey Dr. (4) Obermayer-Wasserscheid, Benedikt Dr. (1) Oertel, Frederike Cosima MD/PhD (5) Ofenbauer, Andreas Dr. (3) Ohler, Uwe Prof. Dr. (5) Panakova, Daniela Dr. (3) Patone, Giannino Dr. (3) Paul, Friedemann Prof. Dr. med. (45) Pempe, Jenniffer (1) Perrot, Andreas (1) Pezzutto, Antonio Prof. Dr. (1) Piazza, Ilaria Dr. (2) Pischon, Tobias Prof. Dr. (13) Pombo, Ana Prof. Dr. (2) Poncette, Lucia (1) Popova, Elena Dr. (2) Popp, Oliver Dr. (2) Potente, Michael Prof. Dr. (3) Poulet, James Prof. Dr. (2) Preibisch, Stephan Dr. (6) Prigione, Alessandro Prof. Dr. (2) Qadri, Fatimunnisa Dr. (4) Quedenau, Claudia (1) Radke, Michael Dr. (3) Rahn, Hans-Peter Dr. (1) Rajewsky, Klaus Prof. Dr. (10) Rajewsky, Nikolaus Prof. Dr. (9) Rathjen, Fritz Prof. Dr. (2) Rehm, Armin Dr. (1) Reimann, Henning Dr. (1) Rhein, Simone Dr. (1) Robson, Michael Dr. (2) Rodrigues, Andre Felipe Dr. (1) Roske, Yvette Dr. (2) Roßius, Jana (1) Saha, Tannishtha (1) Sanchez-Carranza, Oscar Dr. (1) Sander, Maike Prof. Dr. (8) Sanders, Ashley Dr. (2) Sattentau, Quentin James Prof. Dr. (1) Scheidereit, Claus Prof. Dr. (1) Schiattarella, Gabriele G. Dr. (8) Schlegel, Jeanette (1) Schmidt-Ullrich, Ruth Dr. (2) Schmitt, Clemens Prof. Dr. (7) Schnögl, Sigrid (1) Schreiber, Adrian PD Dr. med. (1) Schulz-Menger, Jeanette Prof. Dr. (12) Schütz, Anja Dr. (1) Selbach, Matthias Prof. Dr. (5) Semtner, Marcus Dr. (3) Siegert, Martin Dr. (1) Sigal, Michael Dr. (3) Simon, Katja Prof. Dr. (4) Sommer, Christian (1) Sommer, Thomas Prof. Dr. (1) Spagnoli, Francesca Dr. (1) Specker, Edgar Dr. (3) Sperling, Silke Prof. Dr. (1) Sporbert, Anje Dr. (2) Spuler, Simone Prof. (5) Starke, Ludger Benedikt (2) Stein, Ulrike Prof. Dr. (10) Steinfelder, Svenja Dr. (2) Sunaga-Franze, Daniele Yumi Dr. (1) Todiras, Mihail (3) Treier, Mathias Prof. Dr. (2) Trombke, Janine (1) Tursun, Baris Dr. (7) Uyar, Bora Dr. (2) Vieira da Silva, Rafaela (1) von Kries, Jens Peter Dr. (6) Wachsmann, Alf Dr. (1) Waiczies, Helmar Dr. (2) Waiczies, Sonia PD Dr. (5) Wallukat, Gerd Dr. (4) Wanker, Erich Prof. Dr. (6) Wesolowski, Radoslaw Dr. (1) Westphal, Christina Dr. (1) Wilck, Nicola Dr. med. (7) Willimsky, Gerald Dr. (3) Willnow, Thomas Prof. Dr. (3) Winter, Lukas Dr. (1) Wisinski-Bokiniec, Phillip Dr. (2) Witt, Marie Dr. (2) Woehler, Andrew Dr. (2) Wolf, Jana Prof. Dr. (5) Wolf, Susanne Dr. (1) Wurmus, Ricardo (4) Wyler, Emanuel Dr. (3) Zampieri, Niccolo Dr. (2) Zimmermann, Karin Dr. (1) Zinzen, Robert Patrick Dr. (2) Zühlke, Kerstin Dr. (3) (-) Altmueller, Janine Dr.med. (30) (-) Richter, Matthias (1) Advanced Light Microscopy (1) Genomics (30) 2002 (1) 2005 (4) 2007 (2) 2009 (1) 2011 (1) 2013 (10) 2014 (16) 2015 (24) 2016 (29) 2018 (39) (-) 2019 (31) 2020 (24) 2021 (49) 2022 (37) 2023 (22) 2024 (2) 31 Ergebnisse: Active Filter: Altmueller, Janine Dr.med.Richter, Matthias2019 Sortieren: Treffgenauigkeit Neueste nach älteste Älteste nach neueste 01. April 2019 / J Med Genet Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome S. Pauli J. Altmüller S. Schröder A. Ohlenbusch S. Dreha-Kulaczewski C. Bergmann P. Nürnberg H. Thiele Y. Li B. Wollnik K. Brockmann 01. März 2019 / Mol Ecol Genome-wide patterns of transposon proliferation in an evolutionary young hybrid fish S. Dennenmoser F.J. Sedlazeck M.C Schatz J. Altmüller M. Zytnicki A.W. Nolte 28. Februar 2019 / Blood The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma R. Wagener J. Seufert F. Raimondi S. Bens K. Kleinheinz I. Nagel J. Altmüller H. Thiele D. Hübschmann C.W. Kohler P. Nürnberg R. Au-Yeung B. Burkhardt H. Horn L. Leoncini E.S. Jaffe G. Ott G. Rymkiewicz M. Schlesner R.B. Russell W. Klapper R. Siebert 01. März 2019 / J Mol Diagn Combined targeted resequencing of cytosine DNA methylation and mutations of DNA repair genes with potential use for poly(ADP-ribose) polymerase 1 inhibitor sensitivity testing C. Grimm A. Fischer A.M. Farrelly R. Kalachand R. Castiglione E. Wasserburger M. Hussong Anne M Schultheis J. Altmüller H. Thiele H.C. Reinhardt K. Hauschulz B.T. Hennessy R. Herwig M. Lienhard R. Buettner M.R. Schweiger 01. März 2019 / Mol Genet Genomic Med Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan D. Lima Cunha O.M. Alakloby R. Gruber N. Kakar J. Ahmad S. Alawbathani R. Plank K. Eckl B. Krabichler J. Altmüller P. Nürnberg J. Zschocke G. Borck M. Schmuth A.S. Alabdulkareem K. Abdulaziz Alnutaifi H.C. Hennies 01. August 2019 / Genet Med Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients S. Renner H. Schüler M. Alawi V. Kolbe M. Rybczynski R. Woitschach S. Sheikhzadeh V.C. Stark J. Olfe E. Roser F.S. Seggewies A. Mahlmann M. Hempel M.J. Hartmann M. Hillebrand D. Wieczorek A.E. Volk K. Kloth M. Koch-Hogrebe R.i Abou Jamra D. Mitter J. Altmüller A. Wey-Fabrizius C. Petersen I. Rau G. Borck C. Kubisch T.S. Mir Y. von Kodolitsch K. Kutsche G. Rosenberger 01. Juni 2019 / J Pathol Multiregion human bladder cancer sequencing reveals tumour evolution, bladder cancer phenotypes and implications for targeted therapy T. Heide A. Maurer M. Eipel K. Knoll M. Geelvink J. Veeck R. Knuechel J. van Essen R. Stoehr A. Hartmann J. Altmueller T.A. Graham N.T. Gaisa 12. März 2019 / Nat Commun Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly N. Lahrouchi A. George I. Ratbi R. Schneider S.C. Elalaoui S. Moosa S. Bharti R. Sharma M. Abu-Asab F. Onojafe N. Adadi E.M. Lodder F.Z. Laarabi Y. Lamsyah H. Elorch I. Chebbar A.V. Postma V. Lougaris A. Plebani J. Altmueller H. Kyrieleis V. Meiner H. McNeill K. Bharti S. Lyonnet B. Wollnik A. Henrion-Caude A. Berraho F. Hildebrandt C.R. Bezzina B.P. Brooks A. Sefiani 01. Juni 2019 / Birth Defects Res HSPA6: s new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum F. Kause R. Zhang M. Ludwig E. Schmiedeke A. Rissmann H. Thiele J. Altmueller S. Herms A.C. Hilger F. Hildebrandt H. Reutter 04. April 2019 / Am J Hum Genet The discovery of a LEMD2-associated nuclear envelopathy with early progeroid appearance suggests advanced applications for AI-driven facial phenotyping F. Marbach C.F. Rustad A. Riess D. Đukić T.C. Hsieh I. Jobani T. Prescott A. Bevot F. Erger G. Houge M. Redfors J. Altmueller T. Stokowy C. Gilissen C. Kubisch E. Scarano L. Mazzanti T. Fiskerstrand P.M. Krawitz D. Lessel C. Netzer Seitennummerierung Aktuelle Seite 1 Seite 2 Seite 3 Seite 4 Nächste Seite Next › Letzte Seite Last »
01. April 2019 / J Med Genet Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome S. Pauli J. Altmüller S. Schröder A. Ohlenbusch S. Dreha-Kulaczewski C. Bergmann P. Nürnberg H. Thiele Y. Li B. Wollnik K. Brockmann
01. März 2019 / Mol Ecol Genome-wide patterns of transposon proliferation in an evolutionary young hybrid fish S. Dennenmoser F.J. Sedlazeck M.C Schatz J. Altmüller M. Zytnicki A.W. Nolte
28. Februar 2019 / Blood The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma R. Wagener J. Seufert F. Raimondi S. Bens K. Kleinheinz I. Nagel J. Altmüller H. Thiele D. Hübschmann C.W. Kohler P. Nürnberg R. Au-Yeung B. Burkhardt H. Horn L. Leoncini E.S. Jaffe G. Ott G. Rymkiewicz M. Schlesner R.B. Russell W. Klapper R. Siebert
01. März 2019 / J Mol Diagn Combined targeted resequencing of cytosine DNA methylation and mutations of DNA repair genes with potential use for poly(ADP-ribose) polymerase 1 inhibitor sensitivity testing C. Grimm A. Fischer A.M. Farrelly R. Kalachand R. Castiglione E. Wasserburger M. Hussong Anne M Schultheis J. Altmüller H. Thiele H.C. Reinhardt K. Hauschulz B.T. Hennessy R. Herwig M. Lienhard R. Buettner M.R. Schweiger
01. März 2019 / Mol Genet Genomic Med Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan D. Lima Cunha O.M. Alakloby R. Gruber N. Kakar J. Ahmad S. Alawbathani R. Plank K. Eckl B. Krabichler J. Altmüller P. Nürnberg J. Zschocke G. Borck M. Schmuth A.S. Alabdulkareem K. Abdulaziz Alnutaifi H.C. Hennies
01. August 2019 / Genet Med Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients S. Renner H. Schüler M. Alawi V. Kolbe M. Rybczynski R. Woitschach S. Sheikhzadeh V.C. Stark J. Olfe E. Roser F.S. Seggewies A. Mahlmann M. Hempel M.J. Hartmann M. Hillebrand D. Wieczorek A.E. Volk K. Kloth M. Koch-Hogrebe R.i Abou Jamra D. Mitter J. Altmüller A. Wey-Fabrizius C. Petersen I. Rau G. Borck C. Kubisch T.S. Mir Y. von Kodolitsch K. Kutsche G. Rosenberger
01. Juni 2019 / J Pathol Multiregion human bladder cancer sequencing reveals tumour evolution, bladder cancer phenotypes and implications for targeted therapy T. Heide A. Maurer M. Eipel K. Knoll M. Geelvink J. Veeck R. Knuechel J. van Essen R. Stoehr A. Hartmann J. Altmueller T.A. Graham N.T. Gaisa
12. März 2019 / Nat Commun Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly N. Lahrouchi A. George I. Ratbi R. Schneider S.C. Elalaoui S. Moosa S. Bharti R. Sharma M. Abu-Asab F. Onojafe N. Adadi E.M. Lodder F.Z. Laarabi Y. Lamsyah H. Elorch I. Chebbar A.V. Postma V. Lougaris A. Plebani J. Altmueller H. Kyrieleis V. Meiner H. McNeill K. Bharti S. Lyonnet B. Wollnik A. Henrion-Caude A. Berraho F. Hildebrandt C.R. Bezzina B.P. Brooks A. Sefiani
01. Juni 2019 / Birth Defects Res HSPA6: s new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum F. Kause R. Zhang M. Ludwig E. Schmiedeke A. Rissmann H. Thiele J. Altmueller S. Herms A.C. Hilger F. Hildebrandt H. Reutter
04. April 2019 / Am J Hum Genet The discovery of a LEMD2-associated nuclear envelopathy with early progeroid appearance suggests advanced applications for AI-driven facial phenotyping F. Marbach C.F. Rustad A. Riess D. Đukić T.C. Hsieh I. Jobani T. Prescott A. Bevot F. Erger G. Houge M. Redfors J. Altmueller T. Stokowy C. Gilissen C. Kubisch E. Scarano L. Mazzanti T. Fiskerstrand P.M. Krawitz D. Lessel C. Netzer