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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 5
2022
Westphal, Dominik S.; Mastantuono, Elisa; Seidel, Heide; Riedhammer, Korbinian M.; Hahn, Andreas; Vill, Katharina und Wagner, Matias
(2022):
There is more to it than just congenital heart defects - The phenotypic spectrum of TAB2-related syndrome.
In: Gene, Bd. 814, 146167
2021
Krane, Markus; Dressen, Martina; Santamaria, Gianluca; My, Ilaria; Schneider, Christine M.; Dorn, Tatjana; Laue, Svenja; Mastantuono, Elisa; Berutti, Riccardo; Rawat, Hilansi; Gilsbach, Ralf; Schneider, Pedro; Lahm, Harald; Schwarz, Sascha; Doppler, Stefanie A.; Paige, Sharon; Puluca, Nazan; Doll, Sophia; Neb, Irina; Brade, Thomas; Zhang, Zhong; Abou-Ajram, Claudia; Northoff, Bernd; Holdt, Lesca M.; Sudhop, Stefanie; Sahara, Makoto; Goedel, Alexander; Dendorfer, Andreas; Tjong, Fleur V. Y.; Rijlaarsdam, Maria E.; Cleuziou, Julie; Lang, Nora; Kupatt, Christian; Bezzina, Connie; Lange, Rudiger; Bowles, Neil E.; Mann, Matthias; Gelb, Bruce D.; Crotti, Lia; Hein, Lutz; Meitinger, Thomas; Wu, Sean; Sinnecker, Daniel; Gruber, Peter J.; Laugwitz, Karl-Ludwig und Moretti, Alessandra
(2021):
Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome.
In: Circulation, Bd. 144, Nr. 17: S. 1409-1428
Lahm, Harald; Jia, Meiwen; Dressen, Martina; Wirth, Felix; Puluca, Nazan; Gilsbach, Ralf; Keavney, Bernard D.; Cleuziou, Julie; Beck, Nicole; Bondareva, Olga; Dzilic, Elda; Burri, Melchior; König, Karl C.; Ziegelmüller, Johannes A.; Abou-Ajram, Claudia; Neb, Irina; Zhang, Zhong; Doppler, Stefanie A.; Mastantuono, Elisa; Lichtner, Peter; Eckstein, Gertrud; Hörer, Jürgen; Ewert, Peter; Priest, James R.; Hein, Lutz; Lange, Rüdiger; Meitinger, Thomas; Cordell, Heather J.; Mueller-Myhsok, Bertram und Krane, Markus
(2021):
Congenital heart disease risk loci identified by genome-wide association study in European patients.
In: Journal of Clinical Investigation, Bd. 131, Nr. 2, e141837
[PDF, 6MB]
2018
Repp, Birgit M.; Mastantuono, Elisa; Alston, Charlotte L.; Schiff, Manuel; Haack, Tobias B.; Rotig, Agnes; Ardissone, Anna; Lombes, Anne; Catarino, Claudia B.; Diodato, Daria; Schottmann, Gudrun; Poulton, Joanna; Burlina, Alberto; Jonckheere, An; Munnich, Arnold; Rolinski, Boris; Ghezzi, Daniele; Rokicki, Dariusz; Wellesley, Diana; Martinelli, Diego; Wenhong, Ding; Lamantea, Eleonora; Ostergaard, Elsebet; Pronicka, Ewa; Pierre, Germaine; Smeets, Hubert J. M.; Wittig, Ilka; Scurr, Ingrid; Coo, Irenaeus F. M. de; Moroni, Isabella; Smet, Joel; Mayr, Johannes A.; Dai, Lifang; Meirleir, Linda de; Schülke, Markus; Zeviani, Massimo; Morscher, Raphael J.; McFarland, Robert; Seneca, Sara; Klopstock, Thomas; Meitinger, Thomas; Wieland, Thomas; Strom, Tim M.; Herberg, Ulrike; Ahting, Uwe; Sperl, Wolfgang; Nassogne, Marie-Cecile; Ling, Han; Fang, Fang; Freisinger, Peter; Coster, Rudy van; Strecker, Valentina; Taylor, Robert W.; Häberle, Johannes; Vockley, Jerry; Prokisch, Holger und Wortmann, Saskia
(2018):
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
In: Orphanet Journal of Rare Diseases
13:120
[PDF, 3MB]
Dorn, Tatjana; Kornherr, Jessica; Parrotta, Elvira I.; Zawada, Dorota; Ayetey, Harold; Santamaria, Gianluca; Iop, Laura; Mastantuono, Elisa; Sinnecker, Daniel; Goedel, Alexander; Dirschinger, Ralf J.; My, Ilaria; Laue, Svenja; Bozoglu, Tarik; Baarlink, Christian; Ziegler, Tilman; Graf, Elisabeth; Hinkel, Rabea; Cuda, Giovanni; Kääb, Stefan; Grace, Andrew A.; Grosse, Robert; Kupatt, Christian; Meitinger, Thomas; Smith, Austin G.; Laugwitz, Karl-Ludwig und Moretti, Alessandra
(2018):
Interplay of cell–cell contacts and RhoA/MRTF‐A signaling regulates cardiomyocyte identity.
In: EMBO Journal, Bd. 37, Nr. 12, e98133