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Journal Article

Thiele, Holger ORCID: 0000-0002-0169-998X, Freund, Anne, Gimenez, Maria Rubini, de Waha-Thiele, Suzanne, Akin, Ibrahim, Poss, Janine, Feistritzer, Hans-Josef, Fuernau, Georg ORCID: 0000-0002-3813-8772, Graf, Tobias, Nef, Holger, Hamm, Christian, Bohm, Michael, Lauten, Alexander, Schulze, P. Christian, Voigt, Ingo, Nordbeck, Peter ORCID: 0000-0002-2560-4068, Felix, Stephan B., Abel, Peter, Baldus, Stephan, Laufs, Ulrich, Lenk, Karsten, Landmesser, Ulf, Skurk, Carsten, Pieske, Burkert, Tschope, Carsten ORCID: 0000-0001-5243-8985, Hennersdorf, Marcus, Wengenmayer, Tobias, Preusch, Michael, Maier, Lars S., Jung, Christian ORCID: 0000-0001-8325-250X, Kelm, Malte, Clemmensen, Peter, Westermann, Dirk, Seidler, Tim ORCID: 0000-0002-6158-5087, Schieffer, Bernhard, Rassaf, Tienush, Mahabadi, Amir-Abbas, Vasa-Nicotera, Mariuca, Meincke, Felix, Seyfarth, Melchior, Kersten, Alexander, Rottbauer, Wolfgang, Boekstegers, Peter, Muellenbach, Ralf, Dengler, Thomas, Kadel, Christoph, Schempf, Benjamin, Karagiannidis, Christian, Hopf, Hans-Bernd, Lehmann, Ralf, Bufe, Alexander, Baumanns, Stefan, Oner, Alper, Linke, Axel, Sedding, Daniel, Ferrari, Markus, Bruch, Leonhard, Goldmann, Britta, John, Stefan, Mollmann, Helge, Franz, Jutta, Lapp, Harald, Lauten, Philipp, Noc, Marko, Goslar, Tomaz, Oerlecke, Ilka, Ouarrak, Taoufik, Schneider, Steffen, Desch, Steffen and Zeymer, Uwe (2021). Extracorporeal life support in patients with acute myocardial infarction complicated by cardiogenic shock-Design and rationale of the ECLS-SHOCK trial. Am. Heart J., 234. S. 1 - 12. NEW YORK: MOSBY-ELSEVIER. ISSN 1097-6744

Bamborschke, Daniel, Oezdemir, Oezkan, Kreutzer, Mona, Motameny, Susanne, Thiele, Holger ORCID: 0000-0002-0169-998X, Kribs, Angela, Doetsch, Joerg, Altmueller, Janine, Nuernberg, Peter and Cirak, Sebahattin (2021). Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours. Am. J. Med. Genet. A, 185 (1). S. 90 - 97. HOBOKEN: WILEY. ISSN 1552-4833

Cammann, Victoria L., Szawan, Konrad A., Stahli, Barbara E., Kato, Ken, Budnik, Monika, Wischnewsky, Manfred, Dreiding, Sara, Levinson, Rena A., Di Vece, Davide, Gili, Sebastiano, Citro, Rodolfo, Bossone, Eduardo, Neuhaus, Michael, Franke, Jennifer, Meder, Benjamin, Jaguszewski, Milosz, Noutsias, Michel, Knorr, Maike, Heiner, Susanne, D'Ascenzo, Fabrizio, Dichtl, Wolfgang, Burgdorf, Christof, Kherad, Behrouz, Tschope, Carsten, Sarcon, Annahita, Shinbane, Jerold, Rajan, Lawrence, Michels, Guido, Pfister, Roman, Cuneo, Alessandro, Jacobshagen, Claudius, Karakas, Mahir, Koenig, Wolfgang, Pott, Alexander, Meyer, Philippe, Roffi, Marco, Banning, Adrian, Wolfrum, Mathias, Cuculi, Florim, Kobza, Richard, Fischer, Thomas A., Vasankari, Tuija, Airaksinen, K. E. Juhani, Napp, L. Christian ORCID: 0000-0001-9945-0842, Dworakowski, Rafal, MacCarthy, Philip, Kaiser, Christoph, Osswald, Stefan, Galiuto, Leonarda, Chan, Christina, Bridgman, Paul, Beug, Daniel, Delmas, Clement, Lairez, Olivier, Gilyarova, Ekaterina, Shilova, Alexandra, Gilyarov, Mikhail, El-Battrawy, Ibrahim, Akin, Ibrahim, Polednikova, Karolina, Tous, Petr, Winchester, David E., Galuszka, Jan, Ukena, Christian, Poglajen, Gregor, Carrilho-Ferreira, Pedro, Hauck, Christian, Paolini, Carla, Bilato, Claudio ORCID: 0000-0003-3474-0579, Kobayashi, Yoshio, Shoji, Toshihiro, Ishibashi, Iwao, Takahara, Masayuki, Himi, Toshiharu, Din, Jehangir, Al-Shammari, Ali, Prasad, Abhiram, Rihal, Charanjit S., Liu, Kan, Schulze, P. Christian, Bianco, Matteo, Jorg, Lucas, Rickli, Hans, Pestana, Goncalo, Nguyen, Thanh H., Bohm, Michael, Maier, Lars S., Pinto, Fausto J., Widimsky, Petr, Felix, Stephan B., Braun-Dullaeus, Ruediger C., Rottbauer, Wolfgang, Hasenfuss, Gerd, Pieske, Burkert M., Schunkert, Heribert, Borggrefe, Martin, Thiele, Holger ORCID: 0000-0002-0169-998X, Bauersachs, Johann, Katus, Hugo A., Horowitz, John D., Di Mario, Carlo, Muenzel, Thomas ORCID: 0000-0001-5503-4150, Crea, Filippo, Bax, Jeroen J., Luscher, Thomas F., Ruschitzka, Frank, Ghadri, Jelena R., Opolski, Grzegorz and Templin, Christian (2020). Age -Related Variations in Takotsubo Syndrome. J. Am. Coll. Cardiol., 75 (16). S. 1869 - 1878. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1558-3597

Uddin, Syed Ashraf, Cesarato, Nicole, Humbatova, Aytaj, Schmidt, Axel, Ur Rehman, Fazal, Naeem, Muhammad, Wolf, Sabrina, Tareen, Abdul Samad, Panezai, Muhammad Anwar, Thiele, Holger ORCID: 0000-0002-0169-998X, Wali, Abdul, Foelster-Holst, Regina, Basit, Sulman ORCID: 0000-0003-4294-6825, Ayub, Muhammad and Betz, Regina C. (2020). Apparent Missense Mutation in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing. Acta Derm.-Venereol., 100. UPPSALA: ACTA DERMATO-VENEREOLOGICA. ISSN 1651-2057

Pohl-Rescigno, Esther, Hauke, Jan, Loibl, Sibylle, Moebus, Volker, Denkert, Carsten, Fasching, Peter A., Kayali, Mohamad, Ernst, Corinna ORCID: 0000-0001-7756-8815, Weber-Lassalle, Nana, Hanusch, Claus, Tesch, Hans, Mueller, Volkmar, Altmueller, Janine, Thiele, Holger ORCID: 0000-0002-0169-998X, Untch, Michael, Luebbe, Kristina, Nuernberg, Peter, Rhiem, Kerstin, Furlanetto, Jenny, Lederer, Bianca, Jackisch, Christian, Nekljudova, Valentina, Schmutzler, Rita K., Schneeweiss, Andreas and Hahnen, Eric (2020). Association of Germline Variant Status With Therapy Response in High-risk Early-Stage Breast Cancer A Secondary Analysis of the GeparOcto Randomized Clinical Trial. JAMA Oncol., 6 (5). S. 744 - 749. CHICAGO: AMER MEDICAL ASSOC. ISSN 2374-2445

Ganapathi, Mythily ORCID: 0000-0003-2834-0843, Argyriou, Loukas, Martinez-Azorin, Francisco ORCID: 0000-0001-6250-7745, Morlot, Susanne, Yigit, Gokhan, Lee, Teresa M., Auber, Bernd, von Gise, Alexander, Petrey, Donald S., Thiele, Holger ORCID: 0000-0002-0169-998X, Cyganek, Lukas ORCID: 0000-0001-9120-1382, Sabater-Molina, Maria ORCID: 0000-0003-1352-1748, Ahimaz, Priyanka, Cabezas-Herrera, Juan, Sorli-Garcia, Moises, Zibat, Arne, Siegelin, Markus D., Burfeind, Peter, Buchovecky, Christie M., Hasenfuss, Gerd, Honig, Barry, Li, Yun, Iglesias, Alejandro D. and Wollnik, Bernd (2020). Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis. Hum. Genet., 139 (11). S. 1443 - 1455. NEW YORK: SPRINGER. ISSN 1432-1203

Napp, L. Christian ORCID: 0000-0001-9945-0842, Cammann, Victoria L., Jaguszewski, Milosz, Szawan, Konrad A., Wischnewsky, Manfred ORCID: 0000-0003-1365-6351, Gili, Sebastiano, Knorr, Maike, Heiner, Susanne, Citro, Rodolfo, Bossone, Eduardo, D'Ascenzo, Fabrizio, Neuhaus, Michael, Franke, Jennifer, Sorici-Barb, Ioana, Noutsias, Michel, Burgdorf, Christof, Koenig, Wolfgang, Kherad, Behrouz, Sarcon, Annahita, Rajan, Lawrence, Michels, Guido, Pfister, Roman, Cuneo, Alessandro, Jacobshagen, Claudius, Karakas, Mahir, Pott, Alexander, Meyer, Philippe, Arroja, Jose D., Banning, Adrian, Cuculi, Florim, Kobza, Richard, Fischer, Thomas A., Vasankari, Tuija, Airaksinen, K. E. Juhani, Hauck, Christian, Paolini, Carla, Bilato, Claudio ORCID: 0000-0003-3474-0579, Imori, Yoichi, Kato, Ken, Kobayashi, Yoshio, Opolski, Grzegorz, Budnik, Monika, Dworakowski, Rafal, MacCarthy, Philip, Kaiser, Christoph, Osswald, Stefan, Galiuto, Leonarda, Dichtl, Wolfgang, Chan, Christina, Bridgman, Paul, Beug, Daniel, Delmas, Clement, Lairez, Olivier, El-Battrawy, Ibrahim, Akin, Ibrahim, Gilyarova, Ekaterina, Shilova, Alexandra, Gilyarov, Mikhail, Horowitz, John D., Polednikova, Karolina, Tousek, Petr, Widimsky, Petr, Winchester, David E., Galuszka, Jan, Ukena, Christian, Poglajen, Gregor, Carrilho-Ferreira, Pedro, Di Mario, Carlo, Prasad, Abhiram, Rihal, Charanjit S., Schulze, P. Christian, Bianco, Matteo, Crea, Filippo, Borggrefe, Martin, Maier, Lars S., Pinto, Fausto J., Braun-Dullaeus, Ruediger C., Rottbauer, Wolfgang, Katus, Hugo A., Hasenfuss, Gerd, Tschoepe, Carsten, Pieske, Burkert M., Thiele, Holger ORCID: 0000-0002-0169-998X, Schunkert, Heribert, Boehm, Michael, Felix, Stephan B., Muenzel, Thomas, Bax, Jeroen J., Bauersachs, Johann, Braunwald, Eugene, Luescher, Thomas F., Ruschitzka, Frank, Ghadri, Jelena R. and Templin, Christian (2020). Coexistence and outcome of coronary artery disease in Takotsubo syndrome. Eur. Heart J., 41 (34). S. 3255 - 3269. OXFORD: OXFORD UNIV PRESS. ISSN 1522-9645

Kuck, Karl-Heinz, Bleiziffer, Sabine, Eggebrecht, Holger, Ensminger, Stephan, Frerker, Christian, Moellmann, Helge, Nef, Holger, Thiele, Holger ORCID: 0000-0002-0169-998X, Treede, Hendrik, Wimmer-Greinecker, Gerhard and Walther, Thomas (2020). Consensus paper of the German Cardiac Society (DGK) and the German Society for Thoracic and Cardiovascular Surgery (DGTHG) on transcatheter aortic valve implantation (TAVI) 2020. Z. Herz Thorax Gefasschir., 34 (3). S. 194 - 214. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1435-1277

Ufartes, Roser, Berger, Hanna, Till, Katharina, Salinas, Gabriela, Sturm, Marc ORCID: 0000-0002-6552-8362, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger ORCID: 0000-0002-0169-998X, Funke, Rudolf, Apeshiotis, Neophytos, Langen, Hendrik, Wollnik, Bernd, Borchers, Annette and Pauli, Silke (2020). De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome. Hum. Genet., 139 (11). S. 1363 - 1380. NEW YORK: SPRINGER. ISSN 1432-1203

Keller, Natalie, Mendoza-Ferreira, Natalia, Maroofian, Reza, Chelban, Viorica, Khalil, Youssef ORCID: 0000-0001-9025-3017, Mills, Philippa B., Boostani, Reza, Torbati, Paria Najarzadeh, Karimiani, Ehsan Ghayoor, Thiele, Holger ORCID: 0000-0002-0169-998X, Houlden, Henry, Wirth, Brunhilde and Karakaya, Mert (2020). Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism. Neuromusc. Disord., 30 (7). S. 583 - 590. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Hashmi, Jamil A., Fadhli, Fatima, Almatrafi, Ahmed, Afzal, Sibtain, Ramzan, Khushnooda, Thiele, Holger ORCID: 0000-0002-0169-998X, Nuernberg, Peter and Basit, Sulman ORCID: 0000-0003-4294-6825 (2020). Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family. Brain Dev., 42 (8). S. 587 - 594. AMSTERDAM: ELSEVIER. ISSN 1872-7131

Zhang, Rong, Gehlen, Jan, Kawalia, Amit, Melissari, Maria-Theodora, Dakal, Tikam Chand, Menon, Athira M., Hoefele, Julia, Riedhammer, Korbinian, Waffenschmidt, Lea, Fabian, Julia, Breuer, Katinka, Kalanithy, Jeshurun, Hilger, Alina Christine, Sharma, Amit ORCID: 0000-0002-2216-5389, Hoelscher, Alice, Boemers, Thomas M., Pauly, Markus, Leutner, Andreas, Fuchs, Joerg, Seitz, Guido, Ludwikowski, Barbara M., Gomez, Barbara, Hubertus, Jochen, Heydweiller, Andreas, Kurz, Ralf, Leonhardt, Johannes, Kosch, Ferdinand, Holland-Cunz, Stefan, Muensterer, Oliver ORCID: 0000-0003-2790-4395, Ure, Beno, Schmiedeke, Eberhard, Neser, Joerg, Degenhardt, Petra, Maerzheuser, Stefanie, Kleine, Katharina, Schaefer, Mattias, Spychalski, Nicole, Deffaa, Oliver J., Gosemann, Jan-Hendrik, Lacher, Martin, Heilmann-Heimbach, Stefanie, Zwink, Nadine, Jenetzky, Ekkehart ORCID: 0000-0001-5415-8784, Ludwig, Michael, Grote, Phillip ORCID: 0000-0002-9254-1458, Schumacher, Johannes, Thiele, Holger ORCID: 0000-0002-0169-998X and Reutter, Heiko (2020). Human exome and mouse embryonic expression data implicateZFHX3,TRPS1, andCHD7in human esophageal atresia. PLoS One, 15 (6). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Miura, Mizuki, Alessandrini, Hannes, Alkhodair, Abdullah, Attinger-Toller, Adrian, Biasco, Luigi, Lurz, Philipp, Braun, Daniel, Brochet, Eric, Connelly, Kim A., de Bruijn, Sabine, Denti, Paolo, Deuschl, Florian, Estevez-Loureiro, Rodrigo, Fam, Neil, Frerker, Christian, Gavazzoni, Mara, Hausleiter, Jorg, Himbert, Dominique, Ho, Edwin, Juliard, Jean-Michel, Kaple, Ryan, Besler, Christian, Kodali, Susheel, Kreidel, Felix, Kuck, Karl-Heinz, Latib, Azeem, Lauten, Alexander, Monivas, Vanessa, Mehr, Michael, Muntane-Carol, Guillem, Nazif, Tamin, Nickenig, Georg, Pedrazzini, Giovanni, Philippon, Francois, Pozzoli, Alberto, Praz, Fabien, Puri, Rishi, Rodes-Cabau, Josep, Schafer, Ulrich, Schofer, Joachim, Sievert, Horst, Tang, Gilbert H. L., Thiele, Holger ORCID: 0000-0002-0169-998X, Rommel, Karl-Philipp, Vahanian, Alec, Von Bardeleben, Ralph Stephan, Webb, John G., Weber, Marcel ORCID: 0000-0003-4100-9522, Windecker, Stephan, Winkel, Mirjam, Zuber, Michel, Leon, Martin B., Maisano, Francesco ORCID: 0000-0002-3691-1709, Hahn, Rebecca T. and Taramasso, Maurizio (2020). Impact of Massive or Torrential Tricuspid Regurgitation in Patients Undergoing Transcatheter Tricuspid Valve Intervention. JACC-Cardiovasc. Interv., 13 (17). S. 1999 - 2010. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1876-7605

D'Ascenzo, Fabrizio ORCID: 0000-0002-6646-9317, Gili, Sebastiano, Bertaina, Maurizio ORCID: 0000-0001-5727-4107, Iannaccone, Mario ORCID: 0000-0003-0571-3918, Cammann, Victoria L., Di Vece, Davide, Kato, Ken, Saglietto, Andrea ORCID: 0000-0001-9475-1507, Szawan, Konrad A., Frangieh, Antonio H., Boffini, Beatrice, Annaratone, Margherita, Sarcon, Annahita, Levinson, Rena A., Franke, Jennifer, Napp, L. Christian ORCID: 0000-0001-9945-0842, Jaguszewski, Milosz, Noutsias, Michel, Muenzel, Thomas ORCID: 0000-0001-5503-4150, Knorr, Maike, Heiner, Susanne, Katus, Hugo A., Burgdorf, Christof, Schunkert, Heribert, Thiele, Holger ORCID: 0000-0002-0169-998X, Bauersachs, Johann, Tschoepe, Carsten, Pieske, Burkert M., Rajan, Lawrence, Michels, Guido, Pfister, Roman, Cuneo, Alessandro, Jacobshagen, Claudius, Hasenfuss, Gerd, Karakas, Mahir, Koenig, Wolfgang, Rottbauer, Wolfgang, Said, Samir M., Braun-Dullaeus, Ruediger C., Banning, Adrian ORCID: 0000-0002-2842-7861, Cuculi, Florim, Kobza, Richard, Fischer, Thomas A., Vasankari, Tuija, Airaksinen, K. E. Juhani, Opolski, Grzegorz, Dworakowski, Rafal, MacCarthy, Philip, Kaiser, Christoph, Osswald, Stefan, Galiuto, Leonarda, Crea, Filippo, Dichtl, Wolfgang, Franz, Wolfgang M., Empen, Klaus, Felix, Stephan B., Delmas, Clement, Lairez, Olivier, El-Battrawy, Ibrahim, Akin, Ibrahim, Borggrefe, Martin, Horowitz, John D., Kozel, Martin, Tousek, Petr, Widimsky, Petr, Gilyarova, Ekaterina, Shilova, Alexandra, Gilyarov, Mikhail, Biondi-Zoccai, Giuseppe ORCID: 0000-0001-6103-8510, Winchester, David E., Ukena, Christian, Neuhaus, Michael, Bax, Jeroen J., Prasad, Abhiram, Di Mario, Carlo, Boehm, Michael, Gasparini, Mauro, Ruschitzka, Frank, Bossone, Eduardo, Citro, Rodolfo, Rinaldi, Mauro, De Ferrari, Gaetano Maria, Luscher, Thomas, Ghadri, Jelena R. and Templin, Christian (2020). Impact of aspirin on takotsubo syndrome: a propensity score-based analysis of the InterTAK Registry. Eur. J. Heart Fail., 22 (2). S. 330 - 338. HOBOKEN: WILEY. ISSN 1879-0844

Malki, Liron, Sarig, Ofer, Cesarato, Nicole, Mohamad, Janan, Canter, Talia, Assaf, Sari, Pavlovsky, Mor, Vodo, Dan, Anis, Yossi, Bihari, Ofer, Malovitski, Kiril, Gat, Andrea, Thiele, Holger ORCID: 0000-0002-0169-998X, White, Bethany E. Perez, Samuelov, Liat, Nanda, Arti, Paller, Amy S., Betz, Regina C. and Sprecher, Eli (2020). Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis. Genet. Med., 22 (7). S. 1227 - 1235. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

Balogh, Eszter ORCID: 0000-0003-2813-4759, Chandler, Jennifer C. ORCID: 0000-0001-9785-4528, Varga, Mate ORCID: 0000-0003-4289-1705, Tahoun, Mona, Menyhard, Dora K., Schay, Gusztav, Goncalves, Tomas ORCID: 0000-0002-3342-0461, Hamar, Renata, Legradi, Regina ORCID: 0000-0002-5634-4000, Szekeres, Akos, Gribouval, Olivier, Kleta, Robert, Stanescu, Horia, Bockenhauer, Detlef, Kerti, Andrea, Williams, Hywel, Kinsler, Veronica, Di, Wei-Li, Curtis, David, Kolatsi-Joannou, Maria, Hammid, Hafsa, Szocs, Anna, Perczel, Kristof, Maka, Erika, Toldi, Gergely, Sava, Florentina, Arrondel, Christelle, Kardos, Magdolna, Fintha, Attila, Hossain, Ahmed, D'Arco, Felipe, Kaliakatsos, Mario, Koeglmeier, Jutta, Mifsud, William, Moosajee, Mariya, Faro, Ana, Javorszky, Eszter, Rudas, Gabor, Saied, Marwa H., Marzouk, Salah, Kelen, Kata, Gotze, Judit, Reusz, George, Tulassay, Tivadar, Dragon, Francois, Mollet, Geraldine, Motameny, Susanne, Thiele, Holger ORCID: 0000-0002-0169-998X, Dorval, Guillaume ORCID: 0000-0003-3883-1398, Nurnberg, Peter, Perczel, Andras, Szabo, Attila J., Long, David A., Tomita, Kazunori, Antignac, Corinne, Waters, Aoife M. and Tory, Kalman (2020). Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. Proc. Natl. Acad. Sci. U. S. A., 117 (26). S. 15137 - 15148. WASHINGTON: NATL ACAD SCIENCES. ISSN 0027-8424

Rieke, Johanna Magdalena, Zhang, Rong, Braun, Doreen, Yilmaz, Oeznur, Japp, Anna S., Lopes, Filipa M., Pleschka, Michael, Hilger, Alina C., Schneider, Sophia, Newman, William G., Beaman, Glenda M., Nordenskjoeld, Agneta, Ebert, Anne-Karoline, Promm, Martin, Roesch, Wolfgang H., Stein, Raimund, Hirsch, Karin, Schaefer, Frank-Mattias, Schmiedeke, Eberhard, Boemers, Thomas M., Lacher, Martin, Kluth, Dietrich, Gosemann, Jan-Hendrik, Anderberg, Magnus, Barker, Gillian, Holmdahl, Gundela, Laeckgren, Goran, Keene, David, Cervellione, Raimondo M., Giorgio, Elisa, Di Grazia, Massimo, Feitz, Wouter F. J., Marcelis, Carlo L. M., Van Rooij, Iris A. L. M., Boekenkamp, Arend, Beckers, Goedele M. A., Keegan, Catherine E., Sharma, Amit ORCID: 0000-0002-2216-5389, Dakal, Tikam Chand, Wittler, Lars, Grote, Phillip ORCID: 0000-0002-9254-1458, Zwink, Nadine, Jenetzky, Ekkehart, Brusco, Alfredo, Thiele, Holger ORCID: 0000-0002-0169-998X, Ludwig, Michael, Schweizer, Ulrich ORCID: 0000-0003-1380-4780, Woolf, Adrian S. ORCID: 0000-0001-5541-1358, Odermatt, Benjamin and Reutter, Heiko (2020). SLC20A1Is Involved in Urinary Tract and Urorectal Development. Front. Cell. Dev. Biol., 8. LAUSANNE: FRONTIERS MEDIA SA. ISSN 2296-634X

Schaefer, Ulrich, Kempfert, Joerg, Verheye, Stefan, Maisano, Francesco ORCID: 0000-0002-3691-1709, Thiele, Holger ORCID: 0000-0002-0169-998X, Landt, Martin, Haude, Michael, Rudolph, Tanja K., Ince, Hueseyin, Kische, Stephan, Treede, Hendrik, Tonino, Pim and Conradi, Lenard (2020). Safety and Performance Outcomes of a Self-Expanding Transcatheter Aortic Heart Valve The BIOVALVE Trials. JACC-Cardiovasc. Interv., 13 (2). S. 157 - 167. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1876-7605

Lessel, Ivana, Chen, Mei-Jan, Luettgen, Sabine, Arndt, Florian, Fuchs, Sigrid, Meien, Stefanie, Thiele, Holger ORCID: 0000-0002-0169-998X, Jones, Julie R., Shaw, Brandon R., Crossman, David K., Nuernberg, Peter, Korf, Bruce R., Kubisch, Christian and Lessel, Davor ORCID: 0000-0003-4496-244X (2020). Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies. Hum. Genet., 139 (4). S. 483 - 499. NEW YORK: SPRINGER. ISSN 1432-1203

Forstner, Andreas J., Fischer, Sascha B., Schenk, Lorena M., Strohmaier, Jana ORCID: 0000-0002-4364-1487, Maaser-Hecker, Anna, Reinbold, Celine S., Sivalingam, Sugirthan ORCID: 0000-0001-5239-5137, Hecker, Julian, Streit, Fabian ORCID: 0000-0003-1080-4339, Degenhardt, Franziska, Witt, Stephanie H., Schumacher, Johannes, Thiele, Holger ORCID: 0000-0002-0169-998X, Nuernberg, Peter, Guzman-Parra, Jose ORCID: 0000-0002-1463-6435, Orozco Diaz, Guillermo, Auburger, Georg, Albus, Margot, Borrmann-Hassenbach, Margitta, Jose Gonzalez, Maria, Gil Flores, Susana, Cabaleiro Fabeiro, Francisco J., del Rio Noriega, Francisco, Perez Perez, Fermin, Haro Gonzalez, Jesus, Rivas, Fabio, Mayoral, Fermin, Bauer, Michael, Pfennig, Andrea, Reif, Andreas, Herms, Stefan, Hoffmann, Per, Pirooznia, Mehdi ORCID: 0000-0002-4210-6458, Goes, Fernando S., Rietschel, Marcella, Noethen, Markus M. and Cichon, Sven (2020). Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families. Transl. Psychiatr., 10 (1). LONDON: SPRINGERNATURE. ISSN 2158-3188

Pergande, Matthias, Motameny, Susanne, Oezdemir, Oezkan, Kreutzer, Mona, Wang, Haicui, Daimagueler, Huelya-Sevcan, Becker, Kerstin, Karakaya, Mert, Ehrhardt, Harald ORCID: 0000-0003-4587-1734, Elcioglu, Nursel, Ostojic, Slavica, Chao, Cho-Ming, Kawalia, Amit, Duman, Ozgur, Koy, Anne, Hahn, Andreas, Reimann, Jens, Schoner, Katharina, Schaenzer, Anne, Westhoff, Jens H., Schwaibold, Eva Maria Christina, Cossee, Mireille, Imbert-Bouteille, Marion, von Pein, Harald, Haliloglu, Goknur, Topaloglu, Haluk, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger ORCID: 0000-0002-0169-998X, Heller, Raoul and Cirak, Sebahattin (2020). The genomic and clinical landscape of fetal akinesia. Genet. Med., 22 (3). S. 511 - 524. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

This list was generated on Mon May 23 09:09:39 2022 CEST.