Publikationen von 0000-0003-1231-1562
(ORCID: 0000-0003-1231-1562)

Schlingmann, Karl P., Renigunta, Aparna, Hoorn, Ewout J., Forst, Anna-Lena, Renigunta, Vijay, Atanasov, Velko, Mahendran, Sinthura, Barakat, Tahsin Stefan , Gillion, Valentine, Godefroid, Nathalie, Brooks, Alice S., Lugtenberg, Dorien, Lake, Jennifer , Debaix, Huguette, Rudin, Christoph, Knebelmann, Bertrand, Tellier, Stephanie, Rousset-Rouvière, Caroline, Viering, Daan, de Baaij, Jeroen H. F. , Weber, Stefanie, Palygin, Oleg , Staruschenko, Alexander, Kleta, Robert, Houillier, Pascal, Bockenhauer, Detlef, Devuyst, Olivier, Vargas-Poussou, Rosa, Warth, Richard , Zdebik, Anselm A. und Konrad, Martin (2021) Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness. Journal of the American Society of Nephrology 32 (6), S. 1498-1512. Volltext nicht vorhanden.

Oegema, Renske , Barakat, Tahsin Stefan , Wilke, Martina, Stouffs, Katrien , Amrom, Dina, Aronica, Eleonora, Bahi-Buisson, Nadia, Conti, Valerio , Fry, Andrew E. , Geis, Tobias, Andres, David Gomez, Parrini, Elena, Pogledic, Ivana , Said, Edith, Soler, Doriette, Valor, Luis M., Zaki, Maha S. , Mirzaa, Ghayda, Dobyns, William B., Reiner, Orly, Guerrini, Renzo , Pilz, Daniela T., Hehr, Ute, Leventer, Richard J., Jansen, Anna C. , Mancini, Grazia M. S. und Di Donato, Nataliya (2020) International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nature Reviews Neurology 16 (11), S. 618-635. Volltext nicht vorhanden.