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. (8) 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. (11) 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) 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. (9) Franke, Vedran Dr. (4) Fritsche, Raphaela Dr. (3) Gargiulo, Gaetano Dr. (1) Geisberger, Sabrina Yasmin Dr. (1) Gerhardt, Holger Prof. Dr. (8) Ghanbari, Mahsa Dr. (1) Giese, Wolfgang Dr. (1) Gladytz, Thomas (3) Gotthardt, Michael Prof. Dr. (7) Graf, Robin Dr. (3) Grosswendt, Stefanie Dr. (1) Haase, Nadine Dr. (5) Hänig, Christian (1) Haucke, Volker Professor (2) 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) Hofer, Sebastian Dr. (1) Hofstätter, Maria (1) Höpken, Uta Elisabeth PD Dr. (2) Hübner, Norbert Prof. Dr. (12) 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) Kempa, Stefan Dr. (8) 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. (6) Kobelt, Dennis Dr. (2) Kocks, Christine Dr. (3) Kolesnichenko, Marina Dr. (1) 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. (3) 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. (3) 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. (4) Migueles Lozano, Oscar Arturo Dr. (1) Millward, Jason Dr. (2) Mittnenzweig, Markus Dr. (1) Müller, Dominik Prof. Dr. (17) 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. (2) Oertel, Frederike Cosima MD/PhD (5) Ofenbauer, Andreas Dr. (3) Ohler, Uwe Prof. Dr. (7) Panakova, Daniela Dr. (4) Patone, Giannino Dr. (3) Paul, Friedemann Prof. Dr. med. (45) Pempe, Jenniffer (1) Perrot, Andreas (1) Pezzutto, Antonio Prof. Dr. (1) Piazza, Ilaria Dr. (3) Pischon, Tobias Prof. Dr. (14) Pombo, Ana Prof. Dr. (2) 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) Richter, Matthias (1) Robson, Michael Dr. (2) Rodrigues, Andre Felipe Dr. (1) Roske, Yvette Dr. (2) Roßius, Jana (1) Sanchez-Carranza, Oscar Dr. (1) Sander, Maike Prof. Dr. (8) Sanders, Ashley Dr. (4) 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. (13) Schütz, Anja Dr. (1) Selbach, Matthias Prof. Dr. (6) 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, 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) Zauber, Henrik Dr. (1) Zimmermann, Karin Dr. (1) Zinzen, Robert Patrick Dr. (2) Zühlke, Kerstin Dr. (3) (-) Altmueller, Janine Dr.med. (30) Genomics (30) 2002 (1) 2005 (2) 2010 (1) 2013 (22) 2014 (18) 2015 (25) 2017 (32) 2018 (40) (-) 2019 (30) 2020 (24) 2021 (48) 2022 (37) 2023 (19) 2024 (5) 30 Ergebnisse: Active Filter: Altmueller, Janine Dr.med.2019 Sortieren: Treffgenauigkeit Neueste nach älteste Älteste nach neueste Oktober 2019 / FASEB J Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration M.N. Preising B. Görg C. Friedburg N. Qvartskhava B.S. Budde M. Bonus M.R. Toliat C. Pfleger J. Altmüller D. Herebian M. Beyer H.J. Zöllner H.J. Wittsack J. Schaper D. Klee U. Zechner P. Nürnberg J. Schipper A. Schnitzler H. Gohlke B. Lorenz D. Häussinger H.J. Bolz November 2019 / Eur J Hum Genet Assessment of genetic variant burden in epilepsy-associated brain lesions L.M. Niestroj P. May M. Artomov K. Kobow R. Coras E. Pérez-Palma J. Altmüller H. Thiele P. Nürnberg C. Leu A. Palotie M.J. Daly K.M. Klein R. Beschorner Y.G. Weber I. Blümcke D. Lal 03. Oktober 2019 / Am J Hum Genet Autosomal-recessive mutations in MESD cause osteogenesis imperfecta S. Moosa G.L. Yamamoto L. Garbes K. Keupp A. Beleza-Meireles C.A. Moreno E.R. Valadares S.B. de Sousa S. Maia J. Saraiva R.S. Honjo C.A. Kim H. Cabral de Menezes E. Lausch P.V. Lorini A. Lamounier T.C.B. Carniero C. Giunta M. Rohrbach M. Janner O. Semler F. Beleggia Y. Li G. Yigit N. Reintjes J. Altmüller P. Nürnberg D.P. Cavalcanti B. Zabel M.L. Warman D.R. Bertola B. Wollnik C. Netzer 20. August 2019 / Nat Commun Integrative and comparative genomic analyses identify clinically relevant pulmonary carcinoid groups and unveil the supra-carcinoids N. Alcala N. Leblay A.A.G. Gabriel L. Mangiante D. Hervas T. Giffon A.S. Sertier A. Ferrari J. Derks A. Ghantous T.M. Delhomme A. Chabrier C. Cuenin B. Abedi-Ardekani A. Boland R. Olaso V. Meyer J. Altmuller F. Le Calvez-Kelm G. Durand C. Voegele S. Boyault L. Moonen N. Lemaitre P. Lorimier A.C. Toffart A. Soltermann J.H. Clement J. Saenger J.K. Field M. Brevet C. Blanc-Fournier F. Galateau-Salle N. Le Stang P.A. Russell G. Wright G. Sozzi U. Pastorino S. Lacomme J.M. Vignaud V. Hofman P. Hofman O.T. Brustugun M. Lund-Iversen V. Thomas de Montpreville L.A. Muscarella P. Graziano H. Popper J. Stojsic J.F. Deleuze Z. Herceg A. Viari P. Nuernberg G. Pelosi A.M.C. Dingemans M. Milione L. Roz L. Brcic M. Volante M.G. Papotti C. Caux J. Sandoval H. Hernandez-Vargas E. Brambilla E.J.M. Speel N. Girard S. Lantuejoul J.D. McKay M. Foll L. Fernandez-Cuesta 11. Juni 2019 / Sci Rep Calcyphosine-like (CAPSL) is regulated in multiple symmetric lipomatosis and is involved in adipogenesis A. Lindner F. Marbach S. Tschernitz C. Ortner M. Berneburg O. Felthaus L. Prantl M.J. Kye G. Rappl J. Altmüller H. Thiele S. Schreml J. Schreml 06. Juni 2019 / Am J Hum Genet Gain-of-function mutations in KCNN3 encoding the small-conductance Ca(2+)-activated K(+) channel SK3 cause Zimmermann-Laband syndrome C.K. Bauer P.E. Schneeberger F. Kortüm J. Altmüller F. Santos-Simarro L. Baker J. Keller-Ramey S.M. White P.M. Campeau K.W. Gripp K. Kutsche 01. August 2019 / Am J Hum Genet Mutations in PIGB cause an inherited GPI biosynthesis defect with an axonal neuropathy and metabolic abnormality in severe cases Y. Murakami T.T.M. Nguyen N. Baratang P.K. Raju A. Knaus S. Ellard G. Jones B. Lace J. Rousseau N.F. Ajeawung A. Kamei G. Minase M. Akasaka N. Araya E. Koshimizu J. van den Ende F. Erger J. Altmüller Z. Krumina J. Strautmanis I. Inashkina J. Stavusis A. El-Gharbawy J. Sebastian R.D. Puri S. Kulshrestha I.C. Verma E.M. Maier T.B. Haack A. Israni J. Baptista A. Gunning J.A Rosenfeld P. Liu M. Joosten M.E. Rocha M.O. Hashem H.M. Aldhalaan F.S. Alkuraya S. Miyatake N. Matsumoto P.M. Krawitz E. Rossignol T. Kinoshita P.M. Campeau September 2019 / Ann Neurol SSBP1 mutations in dominant optic atrophy with variable retinal degeneration N. Jurkute C. Leu H.M. Pogoda G. Arno A.G. Robson G. Nürnberg J. Altmüller H. Thiele S. Motameny M.R. Toliat K. Powell W. Höhne M. Michaelides A.R. Webster A.T. Moore M. Hammerschmidt P. Nürnberg P. Yu-Wai-Man M. Votruba August 2019 / J Hum Genet Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia H.S. Dafsari R. Sprute G. Wunderlich H.S. Daimagüler E. Karaca A. Contreras K. Becker M. Schulze-Rhonhof K. Kiening T. Karakulak M. Kloss A. Horn A. Pauls P. Nürnberg J. Altmüller H. Thiele B. Assmann A. Koy S. Cirak 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 Seitennummerierung Aktuelle Seite 1 Seite 2 Seite 3 Nächste Seite Next › Letzte Seite Last »
Oktober 2019 / FASEB J Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration M.N. Preising B. Görg C. Friedburg N. Qvartskhava B.S. Budde M. Bonus M.R. Toliat C. Pfleger J. Altmüller D. Herebian M. Beyer H.J. Zöllner H.J. Wittsack J. Schaper D. Klee U. Zechner P. Nürnberg J. Schipper A. Schnitzler H. Gohlke B. Lorenz D. Häussinger H.J. Bolz
November 2019 / Eur J Hum Genet Assessment of genetic variant burden in epilepsy-associated brain lesions L.M. Niestroj P. May M. Artomov K. Kobow R. Coras E. Pérez-Palma J. Altmüller H. Thiele P. Nürnberg C. Leu A. Palotie M.J. Daly K.M. Klein R. Beschorner Y.G. Weber I. Blümcke D. Lal
03. Oktober 2019 / Am J Hum Genet Autosomal-recessive mutations in MESD cause osteogenesis imperfecta S. Moosa G.L. Yamamoto L. Garbes K. Keupp A. Beleza-Meireles C.A. Moreno E.R. Valadares S.B. de Sousa S. Maia J. Saraiva R.S. Honjo C.A. Kim H. Cabral de Menezes E. Lausch P.V. Lorini A. Lamounier T.C.B. Carniero C. Giunta M. Rohrbach M. Janner O. Semler F. Beleggia Y. Li G. Yigit N. Reintjes J. Altmüller P. Nürnberg D.P. Cavalcanti B. Zabel M.L. Warman D.R. Bertola B. Wollnik C. Netzer
20. August 2019 / Nat Commun Integrative and comparative genomic analyses identify clinically relevant pulmonary carcinoid groups and unveil the supra-carcinoids N. Alcala N. Leblay A.A.G. Gabriel L. Mangiante D. Hervas T. Giffon A.S. Sertier A. Ferrari J. Derks A. Ghantous T.M. Delhomme A. Chabrier C. Cuenin B. Abedi-Ardekani A. Boland R. Olaso V. Meyer J. Altmuller F. Le Calvez-Kelm G. Durand C. Voegele S. Boyault L. Moonen N. Lemaitre P. Lorimier A.C. Toffart A. Soltermann J.H. Clement J. Saenger J.K. Field M. Brevet C. Blanc-Fournier F. Galateau-Salle N. Le Stang P.A. Russell G. Wright G. Sozzi U. Pastorino S. Lacomme J.M. Vignaud V. Hofman P. Hofman O.T. Brustugun M. Lund-Iversen V. Thomas de Montpreville L.A. Muscarella P. Graziano H. Popper J. Stojsic J.F. Deleuze Z. Herceg A. Viari P. Nuernberg G. Pelosi A.M.C. Dingemans M. Milione L. Roz L. Brcic M. Volante M.G. Papotti C. Caux J. Sandoval H. Hernandez-Vargas E. Brambilla E.J.M. Speel N. Girard S. Lantuejoul J.D. McKay M. Foll L. Fernandez-Cuesta
11. Juni 2019 / Sci Rep Calcyphosine-like (CAPSL) is regulated in multiple symmetric lipomatosis and is involved in adipogenesis A. Lindner F. Marbach S. Tschernitz C. Ortner M. Berneburg O. Felthaus L. Prantl M.J. Kye G. Rappl J. Altmüller H. Thiele S. Schreml J. Schreml
06. Juni 2019 / Am J Hum Genet Gain-of-function mutations in KCNN3 encoding the small-conductance Ca(2+)-activated K(+) channel SK3 cause Zimmermann-Laband syndrome C.K. Bauer P.E. Schneeberger F. Kortüm J. Altmüller F. Santos-Simarro L. Baker J. Keller-Ramey S.M. White P.M. Campeau K.W. Gripp K. Kutsche
01. August 2019 / Am J Hum Genet Mutations in PIGB cause an inherited GPI biosynthesis defect with an axonal neuropathy and metabolic abnormality in severe cases Y. Murakami T.T.M. Nguyen N. Baratang P.K. Raju A. Knaus S. Ellard G. Jones B. Lace J. Rousseau N.F. Ajeawung A. Kamei G. Minase M. Akasaka N. Araya E. Koshimizu J. van den Ende F. Erger J. Altmüller Z. Krumina J. Strautmanis I. Inashkina J. Stavusis A. El-Gharbawy J. Sebastian R.D. Puri S. Kulshrestha I.C. Verma E.M. Maier T.B. Haack A. Israni J. Baptista A. Gunning J.A Rosenfeld P. Liu M. Joosten M.E. Rocha M.O. Hashem H.M. Aldhalaan F.S. Alkuraya S. Miyatake N. Matsumoto P.M. Krawitz E. Rossignol T. Kinoshita P.M. Campeau
September 2019 / Ann Neurol SSBP1 mutations in dominant optic atrophy with variable retinal degeneration N. Jurkute C. Leu H.M. Pogoda G. Arno A.G. Robson G. Nürnberg J. Altmüller H. Thiele S. Motameny M.R. Toliat K. Powell W. Höhne M. Michaelides A.R. Webster A.T. Moore M. Hammerschmidt P. Nürnberg P. Yu-Wai-Man M. Votruba
August 2019 / J Hum Genet Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia H.S. Dafsari R. Sprute G. Wunderlich H.S. Daimagüler E. Karaca A. Contreras K. Becker M. Schulze-Rhonhof K. Kiening T. Karakulak M. Kloss A. Horn A. Pauls P. Nürnberg J. Altmüller H. Thiele B. Assmann A. Koy S. Cirak
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