Universität zu Köln

Journal Article

Bergmann, Carsten, von Bothmer, Jennifer, Bruechle, Nadina Ortiz, Venghaus, Andreas, Frank, Valeska, Fehrenbach, Henry, Hampel, Tobias, Pape, Lars ORCID: 0000-0002-3635-6418, Buske, Annegret, Jonsson, Jon, Sarioglu, Nanette, Santos, Antonia, Ferreira, Jose Carlos, Becker, Jan U., Cremer, Reinhold, Hoefele, Julia ORCID: 0000-0002-7917-7129, Benz, Marcus R., Weber, Lutz T., Buettner, Reinhard and Zerres, Klaus (2011). Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease. J. Am. Soc. Nephrol., 22 (11). S. 2047 - 2057. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1046-6673

Erger, Florian ORCID: 0000-0002-2768-1702, Bruechle, Nadina Ortiz, Gembruch, Ulrich ORCID: 0000-0001-8284-4669 and Zerres, Klaus (2017). Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases. Arch. Gynecol. Obstet., 295 (4). S. 897 - 907. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1432-0711

Morin, Gilles, Bruechle, Nadina Ortiz, Singh, Amrathlal Rabbind, Knopp, Cordula, Jedraszak, Guillaume, Elbracht, Miriam, Bremond-Gignac, Dominique, Hartmann, Kathi, Sevestre, Henri, Deutz, Peter, Herent, Didier, Nuernberg, Peter, Romeo, Bernard, Konrad, Kerstin ORCID: 0000-0001-9039-2615, Mathieu-Dramard, Michele, Oldenburg, Johannes, Bourges-Petit, Elisabeth, Shen, Yuequan, Zerres, Klaus, Ouadid-Ahidouch, Halima and Rochette, Jacques (2014). Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome. Hum. Mutat., 35 (10). S. 1221 - 1233. HOBOKEN: WILEY-BLACKWELL. ISSN 1098-1004

Morin, Gilles, Bruechle, Nadina Ortiz, Singh, Amrathlal Rabbind, Knopp, Cordula, Jedraszak, Guillaume, Elbracht, Miriam, Bremond-Gignac, Dominique, Hartmann, Kathi, Sevestre, Henri, Deutz, Peter, Herent, Didier, Nuernberg, Peter, Romeo, Bernard, Konrad, Kerstin ORCID: 0000-0001-9039-2615, Mathieu-Dramard, Michele, Oldenburg, Johannes, Bourges-Petit, Elisabeth, Shen, Yuequan, Zerres, Klaus, Ouadid-Ahidouch, Halima and Rochette, Jacques (2014). Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome (vol 35, pg 1221, 2014). Hum. Mutat., 35 (12). S. 1542 - 1543. HOBOKEN: WILEY-BLACKWELL. ISSN 1098-1004