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Anzahl der Publikationen: 5
Zeitschriftenartikel
Kohl, Stefan; Avni, Fred E.; Boor, Peter; Capone, Valentina; Clapp, William L.; Palma, Diego de; Harris, Tess; Heidet, Laurence; Hilger, Alina C.; Liapis, Helen; Lilien, Marc; Manzoni, Gianantonio; Montini, Giovanni; Negrisolo, Susanna; Pierrat, Marie-Jeanne; Raes, Ann; Reutter, Heiko; Schreuder, Michiel F.; Weber, Stefanie; Winyard, Paul J. D.; Woolf, Adrian S.; Schäfer, Franz und Liebau, Max C.
(2022):
Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations.
In: Nephrology Dialysis Transplantation, Bd. 37, Nr. 12: S. 2351-2362
Gehlen, Jan; Giel, Ann-Sophie; Koellges, Ricarda; Haas, Stephan L.; Zhang, Rong; Trcka, Jiri; Sungur, Ayse O.; Renziehausen, Florian; Bornholdt, Dorothea; Jung, Daphne; Hoyer, Paul D.; Nordenskjold, Agneta; Tibboel, Dick; Vlot, John; Spaander, Manon C. W.; Smigiel, Robert; Patkowski, Dariusz; Roeleveld, Nel; Rooij, Iris A. L. M. van; Blaauw, Ivo de; Hoelscher, Alice; Pauly, Marcus; Leutner, Andreas; Fuchs, Joerg; Niethammer, Joel; Melissari, Maria-Theodora; Jenetzky, Ekkehart; Zwink, Nadine; Thiele, Holger; Hilger, Alina Christine; Hess, Timo; Trautmann, Jessica; Marks, Matthias; Baumgarten, Martin; Blaess, Gaby; Landen, Mikael; Fundin, Bengt; Bulik, Cynthia M.; Pennimpede, Tracie; Ludwig, Michael; Ludwig, Kerstin U.; Mangold, Elisabeth; Heilmann-Heimbach, Stefanie; Moebus, Susanne; Herrmann, Bernhard G.; Alsabeah, Kristina; Burgos, Carmen M.; Lilja, Helene E.; Azodi, Sahar; Stenstrom, Pernilla; Arnbjornsson, Einar; Frybova, Barbora; Lebensztejn, Dariusz M.; Debek, Wojciech; Kolodziejczyk, Elwira; Kozera, Katarzyna; Kierkus, Jaroslaw; Kalicinski, Piotr; Stefanowicz, Marek; Socha-Banasiak, Anna; Kolejwa, Michal; Piaseczna-Piotrowska, Anna; Czkwianianc, Elzbieta; Noethen, Markus M.; Grote, Phillip; Rygl, Michal; Reinshagen, Konrad; Spychalski, Nicole; Ludwikowski, Barbara; Hubertus, Jochen; Heydweiller, Andreas; Ure, Benno; Muensterer, Oliver J.; Aubert, Ophelia; Gosemann, Jan-Hendrik; Lacher, Martin; Degenhardt, Petra; Boemers, Thomas M.; Mokrowiecka, Anna; Malecka-Panas, Ewa; Woehr, Markus; Knapp, Michael; Seitz, Guido; de Klein, Annelies; Oracz, Grzegorz; Brosens, Erwin; Reutter, Heiko und Schumacher, Johannes
(2022):
First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B.
In: Human Genetics and Genomics Advances, Bd. 3, Nr. 2, 100093
Bryant, Laura; Li, Dong; Cox, Samuel G.; Marchione, Dylan; Joiner, Evan F.; Wilson, Khadija; Janssen, Kevin; Lee, Pearl; March, Michael E.; Nair, Divya; Sherr, Elliott; Fregeau, Brieana; Wierenga, Klaas J.; Wadley, Alexandrea; Mancini, Grazia M. S.; Powell-Hamilton, Nina; Kamp, Jiddeke van de; Grebe, Theresa; Dean, John; Ross, Alison; Crawford, Heather P.; Powis, Zoe; Cho, Megan T.; Willing, Marcia C.; Manwaring, Linda; Schot, Rachel; Nava, Caroline; Afenjar, Alexandra; Lessel, Davor; Wagner, Matias; Klopstock, Thomas; Winkelmann, Juliane; Catarino, Claudia B.; Retterer, Kyle; Schuette, Jane L.; Innis, Jeffrey W.; Pizzino, Amy; Luttgen, Sabine; Denecke, Jonas; Strom, Tim M.; Monaghan, Kristin G.; Yuan, Zuo-Fei; Dubbs, Holly; Bend, Renee; Lee, Jennifer A.; Lyons, Michael J.; Hoefele, Julia; Gunthner, Roman; Reutter, Heiko; Keren, Boris; Radtke, Kelly; Sherbini, Omar; Mrokse, Cameron; Helbig, Katherine L.; Odent, Sylvie; Cogne, Benjamin; Mercier, Sandra; Bezieau, Stephane; Besnard, Thomas; Kury, Sebastien; Redon, Richard; Reinson, Karit; Wojcik, Monica H.; Ounap, Katrin; Ilves, Pilvi; Innes, A. Micheil; Kernohan, Kristin D.; Costain, Gregory; Meyn, M. Stephen; Chitayat, David; Zackai, Elaine; Lehman, Anna; Kitson, Hilary; Martin, Martin G.; Martinez-Agosto, Julian A.; Nelson, Stan F.; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Sinsheimer, Janet S.; Vilain, Eric; Wan, Jijun; Yoon, Amanda J.; Zheng, Allison; Brimble, Elise; Ferrero, Giovanni Battista; Radio, Francesca Clementina; Carli, Diana; Barresi, Sabina; Brusco, Alfredo; Tartaglia, Marco; Thomas, Jennifer Muncy; Umana, Luis; Weiss, Marjan M.; Gotway, Garrett; Stuurman, K. E.; Thompson, Michelle L.; McWalter, Kirsty; Stumpel, Constance T. R. M.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Tveten, Kristian; Vollo, Arve; Prescott, Trine; Fagerberg, Christina; Laulund, Lone Walentin; Larsen, Martin J.; Byler, Melissa; Lebel, Robert Roger; Hurst, Anna C.; Dean, Joy; Vergano, Samantha A. Schrier; Norman, Jennifer; Mercimek-Andrews, Saadet; Neira, Juanita; Allen, Margot van; Longo, Nicola; Sellars, Elizabeth; Louie, Raymond J.; Cathey, Sara S.; Brokamp, Elly; Heron, Delphine; Snyder, Molly; Vanderver, Adeline; Simon, Celeste; de la Cruz, Xavier; Padilla, Natalia; Crump, J. Gage; Chung, Wendy; Garcia, Benjamin; Hakonarson, Hakon H. und Bhoj, Elizabeth J.
(2020):
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
In: Science Advances, Bd. 6, Nr. 49, eabc9207
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; Hoelscher, Alice; Boemers, Thomas M.; Pauly, Markus; Leutner, Andreas; Fuchs, Jörg; Seitz, Guido; Ludwikowski, Barbara M.; Gomez, Barbara; Hubertus, Jochen; Heydweiller, Andreas; Kurz, Ralf; Leonhardt, Johannes; Kosch, Ferdinand; Holland-Cunz, Stefan; Muensterer, Oliver; Ure, Beno; Schmiedeke, Eberhard; Neser, Jörg; 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; Ludwig, Michael; Grote, Phillip; Schumacher, Johannes; Thiele, Holger und Reutter, Heiko
(2020):
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia.
In: PLOS One 15(6), e0234246 [PDF, 1MB]
In: PLOS One 15(6), e0234246 [PDF, 1MB]
Geis, Tobias; Roedl, Tanja; Topaloglu, Haluk; Balci-Hayta, Burcu; Hinreiner, Sophie; Müller-Felber, Wolfgang; Schoser, Benedikt; Mehraein, Yasmin; Hübner, Angela; Zirn, Birgit; Hoopmann, Markus; Reutter, Heiko; Mowat, David; Schuierer, Gerhard; Schara, Ulrike; Hehr, Ute und Koelbel, Heike
(2019):
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
In: Orphanet Journal of Rare Diseases, Bd. 14, 179