 | Up a level |
Knaup, Karl X., Hackenbeck, Thomas, Popp, Bernt 
ORCID: 0000-0002-3679-1081, Stoeckert, Johanna, Wenzel, Andrea, Buettner-Herold, Maike, Pfister, Frederick, Schueler, Markus, Seven, Didem, May, Annette M., Halbritter, Jan, Groene, Hermann-Josef, Reis, Andre ORCID: 0000-0002-6301-6363, Beck, Bodo B., Amann, Kerstin, Ekici, Arif B. and Wiesener, Michael S.
(2018).
Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition.
J. Am. Soc. Nephrol., 29 (9).
S. 2298 - 2310.
WASHINGTON:
AMER SOC NEPHROLOGY.
ISSN 1533-3450
Vasileiou, Georgia ORCID: 0000-0002-1993-1134, Vergarajauregui, Silvia ORCID: 0000-0002-9247-6123, Endele, Sabine, Popp, Bernt ORCID: 0000-0002-3679-1081, Buettner, Christian, Ekici, Arif B., Gerard, Marion, Bramswig, Nuria C., Albrecht, Beate, Clayton-Smith, Jill, Morton, Jenny, Tomkins, Susan, Low, Karen, Weber, Astrid, Wenzel, Maren, Altmueller, Janine, Li, Yun, Wollnik, Bernd, Hoganson, George, Plona, Maria-Renee, Cho, Megan T., Thiel, Christian T., Luedecke, Hermann-Josef, Strom, Tim M., Calpena, Eduardo ORCID: 0000-0001-6399-6528, Wilkie, Andrew O. M., Wieczorek, Dagmar, Engel, Felix B. ORCID: 0000-0003-2605-3429 and Reis, Andre ORCID: 0000-0002-6301-6363
(2018).
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
Am. J. Hum. Genet., 102 (3).
S. 468 - 480.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Wenzel, Andrea, Altmueller, Janine, Ekici, Arif B., Popp, Bernt ORCID: 0000-0002-3679-1081, Stueber, Kurt, Thiele, Holger, Pannes, Alois, Staubach, Simon, Salido, Eduardo ORCID: 0000-0001-9599-9854, Nuernberg, Peter, Reinhardt, Richard ORCID: 0000-0001-9376-2132, Reis, Andre ORCID: 0000-0002-6301-6363, Rump, Patrick, Hanisch, Franz-Georg, Wolf, Matthias T. F., Wiesener, Michael, Huettel, Bruno and Beck, Bodo B.
(2018).
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.
Sci Rep, 8.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 2045-2322
Wopperer, Florian J., Knaup, Karl X., Stanzick, Kira J., Schneider, Karen, Jobst-Schwan, Tilman, Ekici, Arif B., Uebe, Steffen, Wenzel, Andrea, Schliep, Stefan, Schuerfeld, Carsten, Seitz, Randolf, Bernhardt, Wanja, Goedel, Markus, Wiesener, Antje, Popp, Bernt ORCID: 0000-0002-3679-1081, Stark, Klaus J., Groene, Hermann-Josef, Friedrich, Bjoern, Weiss, Martin, Basic-Jukic, Nikolina ORCID: 0000-0002-0221-2758, Schiffer, Mario, Schroeppel, Bernd, Huettel, Bruno, Beck, Bodo B., Sayer, John A., Ziegler, Christine, Buettner-Herold, Maike, Amann, Kerstin, Heid, Iris M., Reis, Andre, Pasutto, Francesca and Wiesener, Michael S.
(2022).
Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases.
Kidney Int., 102 (2).
S. 405 - 421.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1523-1755