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Nature Cell Biology, ISSN 1465-7392, 02/2003, Volume 5, Issue 2, pp. 137 - 142
Journal Article
Biochemical Society Transactions, ISSN 0300-5127, 11/2018, Volume 46, Issue 6, pp. 1463 - 1473
Retinitis pigmentosa (RP) is the leading cause of inherited blindness. RP is a genetically heterogeneous disorder, with more than 100 different causal genes... 
RHODOPSIN TRANSPORT | WHIRLIN | USHER PROTEIN NETWORK | HUMAN-DISEASE | GENE | CRYSTAL-STRUCTURE | ROD | BIOCHEMISTRY & MOLECULAR BIOLOGY | 208DELG MUTATION | FRAMESHIFT MUTATION | MYOSIN VIIA
Journal Article
Journal of Cell Science, ISSN 0021-9533, 03/2011, Volume 124, Issue 5, pp. 718 - 726
Ciliopathies represent a newly emerging group of human diseases that share a common etiology resulting from dysfunction of the cilium or centrosome. The gene... 
Retinitis pigmentosa | RP2 | Importin | Cilia
Journal Article
Journal of Cell Science, ISSN 0021-9533, 03/2011, Volume 124, Issue 5, pp. 718 - 726
Ciliopathies represent a newly emerging group of human diseases that share a common etiology resulting from dysfunction of the cilium or centrosome. The gene... 
Journal Article
Nature Cell Biology, ISSN 1465-7392, 07/2010, Volume 12, Issue 7, pp. 703 - 710
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 08/2013, Volume 123, Issue 8, pp. 3243 - 3253
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, pp. 336 - 345
Journal Article
by Chaki, Moumita and Airik, Rannar and Ghosh, Amiya K and Giles, Rachel H and Chen, Rui and Slaats, Gisela G and Wang, Hui and Wang, Shaohui and Hurd, Toby W and Zhou, Weibin and Cluckey, Andrew and Gee, Heon Yung and Ramaswami, Gokul and Hong, Chen-Jei and Hamilton, Bruce A and Červenka, Igor and Ganji, Ranjani Sri and Bryja, Vitezslav and Arts, Heleen H and van Reeuwijk, Jeroen and Oud, Machteld M and Letteboer, Stef J.F and Roepman, Ronald and Husson, Hervé and Ibraghimov-Beskrovnaya, Oxana and Yasunaga, Takayuki and Walz, Gerd and Eley, Lorraine and Sayer, John A and Schermer, Bernhard and Liebau, Max C and Benzing, Thomas and Le Corre, Stephanie and Drummond, Iain and Janssen, Sabine and Allen, Susan J and Natarajan, Sivakumar and O’Toole, John F and Attanasio, Massimo and Saunier, Sophie and Antignac, Corinne and Koenekoop, Robert K and Ren, Huanan and Lopez, Irma and Nayir, Ahmet and Stoetzel, Corinne and Dollfus, Helene and Massoudi, Rustin and Gleeson, Joseph G and Andreoli, Sharon P and Doherty, Dan G and Lindstrad, Anna and Golzio, Christelle and Katsanis, Nicholas and Pape, Lars and Abboud, Emad B and Al-Rajhi, Ali A and Lewis, Richard A and Omran, Heymut and Lee, Eva Y.-H.P and Sekiguchi, JoAnn M and Saunders, Rudel and Johnson, Colin A and Garner, Elizabeth and Vanselow, Katja and Andersen, Jens S and Shlomai, Joseph and Nurnberg, Peter and Nurnberg, Gudrun and Levy, Shawn and Smogorzewska, Agata and Otto, Edgar A and Hildebrandt, Friedhelm
Cell, ISSN 0092-8674, 08/2012, Volume 150, Issue 3, pp. 533 - 548
Journal Article
American Journal of Respiratory and Critical Care Medicine, ISSN 1073-449X, 03/2014, Volume 189, Issue 6, pp. 707 - 717
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 05/2011, Volume 121, Issue 5, pp. 2013 - 2024
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some... 
MEDICINE, RESEARCH & EXPERIMENTAL | OXIDATIVE STRESS | GENE | COENZYME-Q BIOSYNTHESIS | DIPHOSPHATE SYNTHASE SUBUNIT-2 | NPHS2 | GLOMERULAR PROTEIN | UBIQUINONE BIOSYNTHESIS | COQ DEFICIENCY | FOCAL SEGMENTAL GLOMERULOSCLEROSIS | SACCHAROMYCES-CEREVISIAE | Deafness | Gene mutations | Genetic aspects | Nephrotic syndrome | Research | Health aspects | Risk factors
Journal Article
Nature Genetics, ISSN 1061-4036, 2010, Volume 42, Issue 10, pp. 840 - 850
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2013, Volume 93, Issue 4, pp. 672 - 686
Journal Article