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2014
Gee, Heon Yung 
ORCID: 0000-0002-8741-6177, Otto, Edgar A., Hurd, Toby W., Ashraf, Shazia, Chaki, Moumita, Cluckey, Andrew, Vega-Warner, Virginia, Saisawat, Pawaree, Diaz, Katrina A., Fang, Humphrey, Kohl, Stefan, Allen, Susan J., Airik, Rannar, Zhou, Weibin, Ramaswami, Gokul, Janssen, Sabine, Fu, Clementine, Innis, Jamie L., Weber, Stefanie, Vester, Udo, Davis, Erica E., Katsanis, Nicholas ORCID: 0000-0002-2480-0171, Fathy, Hanan M., Jeck, Nikola, Klaus, Gunther, Nayir, Ahmet, Rahim, Khawla A., Al Attrach, Ibrahim, Al Hassoun, Ibrahim, Ozturk, Savas ORCID: 0000-0002-0961-3810, Drozdz, Dorota, Helmchen, Udo, O'Toole, John F., Attanasio, Massimo ORCID: 0000-0002-1278-3650, Lewis, Richard A., Nuernberg, Gudrun, Nuernberg, Peter, Washburn, Joseph, MacDonald, James, Innis, Jeffrey W., Levy, Shawn ORCID: 0000-0002-1369-5740 and Hildebrandt, Friedhelm
(2014).
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.
Kidney Int., 85 (4).
S. 880 - 888.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1523-1755
2010
Seeman, Tomas, Seemanova, Eva, Nuernberg, Gudrun, Nuernberg, Peter, Janssen, Sabine and Otto, Edgar A. (2010). Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations. Pediatr. Nephrol., 25 (11). S. 2375 - 2377. NEW YORK: SPRINGER. ISSN 0931-041X