Einträge von Kölbel, Heike auf dem Publikationsserver

Lessel, Ivana , Baresic, Anja, Chinn, Ivan K., May, Jonathan, Goenka, Anu, Chandler, Kate E., Posey, Jennifer E., Afenjar, Alexandra, Averdunk, Luisa, Bedeschi, Maria Francesca, Besnard, Thomas, Brager, Rae, Brick, Lauren, Brugger, Melanie, Brunet, Theresa, Byrne, Susan, Calle-Martín, Oscar de la, Capra, Valeria, Cardenas, Paul, Chappé, Céline, Chong, Hey J., Cogne, Benjamin, Conboy, Erin, Cope, Heidi, Courtin, Thomas, Deb, Wallid, Dilena, Robertino, Dubourg, Christèle, Elgizouli, Magdeldin, Fernandes, Erica, Fitzgerald, Kristi K., Gangi, Silvana, George-Abraham, Jaya K., Gucsavas-Calikoglu, Muge, Haack, Tobias B., Hadonou, Medard, Hanker, Britta, Hüning, Irina, Iascone, Maria, Isidor, Bertrand, Järvelä, Irma, Jin, Jay J., Jorge, Alexander A.L., Josifova, Dragana, Kalinauskiene, Ruta, Kamsteeg, Erik-Jan, Keren, Boris, Kessler, Elena, Kölbel, Heike, Kozenko, Mariya, Kubisch, Christian , Kuechler, Alma, Leal, Suzanne M., Leppälä, Juha, Luu, Sharon M., Lyon, Gholson J., Madan-Khetarpal, Suneeta, Mancardi, Margherita, Marchi, Elaine, Mehta, Lakshmi, Menendez, Beatriz, Morel, Chantal F., Harasink, Sue Moyer, Nevay, Dayna-Lynn, Nigro, Vincenzo, Odent, Sylvie, Oegema, Renske , Pappas, John , Pastore, Matthew T., Perilla-Young, Yezmin, Platzer, Konrad, Powell-Hamilton, Nina, Rabin, Rachel, Rekab, Aisha, Rezende, Raissa C., Robert, Leema, Romano, Ferruccio, Scala, Marcello, Poths, Karin, Schrauwen, Isabelle, Sebastian, Jessica, Short, John, Sidlow, Richard, Sullivan, Jennifer, Szakszon, Katalin, Tan, Queenie K.G., Wagner, Matias, Wieczorek, Dagmar, Yuan, Bo, Maeding, Nicole, Strunk, Dirk , Begtrup, Amber, Banka, Siddharth, Lupski, James R., Tolosa, Eva und Lessel, Davor (2025) DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders. The American Journal of Human Genetics 112 (2), S. 394-413.

Paul, Luisa, Rupprich, Katrin, Della Marina, Adela, Stein, Anja, Elgizouli, Magdeldin, Kaiser, Frank J., Schweiger, Bernd, Köninger, Angela, Iannaccone, Antonella, Hehr, Ute, Kölbel, Heike, Roos, Andreas, Schara-Schmidt, Ulrike und Kuechler, Alma (2020) Further evidence for POMK as candidate gene for WWS with meningoencephalocele. Orphanet Journal of Rare Diseases 15 (1). Volltext nicht vorhanden.

Geis, Tobias, Rödl, Tanja, Topaloğlu, 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 Kölbel, Heike (2019) Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders. Orphanet Journal of Rare Diseases 14 (1). Volltext nicht vorhanden.