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by Athanasiou, Y and Zavros, M and Arsali, M and Papazachariou, L and Demosthenous, P and Savva, I and Voskarides, K and Deltas, C and Pierides, A and Feriozzi, S and Perrin, A and West, M and Nicholls, K and Sunder-Plassmann, G and Torras, J and Neumann, P and Cybulla, M and Cofiell, R and Kukreja, A and Bedard, K and Yan, Y and Mickle, A and Ogawa, M and Bedrosian, C and Faas, S and Meszaros, K and Pruess, L and Gondan, M and Ritz, E and Schaefer, F and Testa, A and Spoto, B and Leonardis, D and Sanguedolce, M. C and Pisano, A and Parlongo, M. R and Tripepi, G and Mallamaci, F and Zoccali, C and Trujillano, D and Bullich, G and Ballarin, J and Torra, R and Estivill, X and Ars, E and Kleber, M. E and Delgado, G and Grammer, T. B and Silbernagel, G and Kraemer, B. K and Maerz, W and Riccio, E and Pisani, A and Abdalla, A. A and Malone, A. F and Winn, M. P and Goodship, T and Cronin, C and Conlon, P. J and Casserly, L. F and Nishio, S and Sakuhara, Y and Matsuoka, N and Yamamoto, J and Nakazawa, D and Nakagakaki, T and Abo, D and Shibazaki, S and Atsumi, T and Mazzinghi, B and Giglio, S and Provenzano, A and Becherucci, F and Sansavini, G and Ravaglia, F and Roperto, R. M and Murer, L and Lasagni, L and Materassi, M and Romagnani, P and Schmidts, M and Christou, S and Cortes, C and McInerney-Leo, A and Kayserili, H and Zankl, A and Peter, S and Duncan, E and Wicking, C and Beales, P. L and Mitchison, H and Magestro, M and Vekeman, F and Nichols, T and Karner, P and Duh, M. S and Srivastava, B and Van Doorn-Khosrovani, S. B. V. W and Zonnenberg, B. A and Musetti, C and ... and On Behalf Of The MAURO Working Group and On Behalf Of The Fabry Outcome Survey Renal Working Group and Uk1ok Consortium
Nephrology, dialysis, transplantation, ISSN 0931-0509, 05/2014, Volume 29, Issue suppl 3, pp. iii339 - iii350
Journal Article
Nature communications, ISSN 2041-1723, 2017, Volume 8, Issue 1, pp. 14279 - 14279
Journal Article
by Haworth, S and Shapland, C.Y and Hayward, Caroline and Prins, Bram and Felix, Janine and Medina-Gomez, Carolina and Rivadeneira Ramirez, Fernando and Wang, C and Ahluwalia, TS and Vrijheid, Martine and Guxens Junyent, Mònica and Sunyer, Jordi and Tachmazidou, I and Walter, K and Iotchkova, V and Jackson, Anne and Cleal, L and Huffmann, J and Min, Josine and Sass, L and Timmers, P and Al Turki, S and Anderson, CA and Anney, Richard and Antony, D and Soler Artigas, Maria and Ayub, M and Bala, S and Barrett, JC and Barroso, Inês and Beales, P and Bentham, J and Bhattacharya, Shoumo and Birney, Ewan and Blackwood, D and Bobrow, M and Bochukova, E and Bolton, PF and Bounds, R and Boustred, C and Breen, Gerome and Calissano, M and Carss, K and Charlton, R and Chatterjee, Krishna and Chen, Leslie and Ciampi, Antonio and Cirak, S and Clapham, P and Clement, G and Coates, G and Cocca, M and Collier, David and Cosgrove, C and Cox, Tessa and Craddock, Nick and Crooks, L and Curran, S and Curtis, David and Daly, A and Danecek, P and Day, Ian and Day-Williams, A and Dominiczak, Anna and Down, T and Li, Yingrui and Dunham, David and Durbin, R and Edkins, Ted and Ekong, Rosemary and Ellis, Paul and Evans, David and Farooqi, Sadaf and Fitzpatrick, David and Flicek, P and Floyd, Jamie and Foley, AR and Franklin, Christopher and Futema, M and Gallagher, Louise and Gaunt, Tom and Geihs, M and Geschwind, D and Greenwood, John and Griffin, H and Grozeva, Detelina and Guo, X.S and Guo, Xiuqing and Gurling, Hugh and Hart, Deborah and Henicks, AE and Holmans, Peter and Howie, B and Huang, Jian and Huang, L.R and Hubbard, T and Humphries, Steve and Hurles, Matthew and Hysi, Pirro and Jackson, DK and ... and UK10K Consortium and UK10K consortium
Nature communications, ISSN 2041-1723, 01/2019, Volume 10, Issue 1, pp. 357 - 357
Journal Article
Nature cell biology, ISSN 1465-7392, 2015, Volume 17, Issue 8, pp. 1074 - 1087
Life Sciences & Biomedicine | Science & Technology | Cell Biology | Humans | Pregnancy Proteins - genetics | Databases, Genetic | Suppressor Factors, Immunologic - genetics | Photoreceptor Cells - ultrastructure | Pregnancy Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Cerebellum - abnormalities | Genetic Testing - methods | Suppressor Factors, Immunologic - metabolism | Membrane Proteins - deficiency | Transfection | RNA Interference | HEK293 Cells | Kidney Diseases, Cystic - genetics | Genomics - methods | Genetic Predisposition to Disease | Genome-Wide Association Study | Reproducibility of Results | Caenorhabditis elegans - metabolism | Cilia - pathology | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Mice, Inbred C57BL | Abnormalities, Multiple | Genetic Markers | Eye Abnormalities - genetics | Cilia - metabolism | Zebrafish - genetics | Cilia - genetics | Mice, Knockout | Proteins - genetics | Caenorhabditis elegans - ultrastructure | Phenotype | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Proteins - metabolism | Photoreceptor Cells - metabolism | Zebrafish - metabolism | Retina - abnormalities | High-Throughput Nucleotide Sequencing | Ciliary Motility Disorders - metabolism | Mutation | Ciliary Motility Disorders - genetics | RNA | Cilia and ciliary motion | Genetic research | Biosynthesis | Genetic aspects | Research | Gene expression | Properties | Index Medicus | reverse genetics | cilia | ciliopathies | Joubert syndrome | whole-genome siRNA screen | Jeune syndrome
Journal Article
by Walter, Klaudia and Min, Josine L and Huang, Jie and Crooks, Lucy and Memari, Yasin and McCarthy, Shane and Perry, John and Xu, Changjiang and Futema, Marta and Lawson, Daniel and Iotchkova, Valentina and Schiffels, Stephan and Henicks, Auey E and Danecek, Petr and Li, Rui and Floyd, James and Wain, Louise and Barroso, Inês and Humphries, Steve and Hurles, Matthew and Zeggini, Eleftheria and Barrett, Jeffrey and Plagnol, Vincent and Richards, Brent and Greenwood, Celia and Timpson, Nicholas and Durbin, Richard and Bala, Senduran and Clapham, Peter and Coates, Guy and Cox, Tony and Daly, Allan and Du, Yuanping and Edkins, Ted and Ellis, Peter and Flicek, Paul and Guo, Xiaosen and Guo, Xueqin and Huang, Liren and Jackson, David K and Joyce, Chris and Keane, Thomas and Kolb-Kokocinski, Anja and Langford, Cordelia and Li, Yingrui and Liang, Jieqin and Lin, Hong and Liu, Ryan and Maslen, John and Muddyman, Dawn and Quail, Michael A and Stalker, Jim and Sun, Jianping and Tian, Jing and Wang, Guangbiao and Wang, Jun and Wang, Yu and Wong, Kim and Zhang, Pingbo and Birney, Ewan and Boustred, Chris and Chen, Lu and Clement, Gail and Cocca, Massimiliano and Smith, Davey and Day, Ian N.M and Day-Williams, Aaron and Down, Thomas and Dunham, David and Evans, David M and Gaunt, Tom and Geihs, Matthias and Hart, Deborah and Howie, Bryan and Hubbard, Tim and Hysi, Pirro and Jamshidi, Yalda and Karczewski, Konrad and Kemp, John and Lachance, Genevieve and Lek, Monkol and Lopes, Margarida and MacArthur, Daniel G and Marchini, Jonathan and Mangino, Massimo and Mathieson, Iain and Metrustry, Sarah and Moayyeri, Alireza and Northstone, Kate and Panoutsopoulou, Kalliope and Paternoster, Lavinia and Quaye, Lydia and Ring, Susan and Ritchie, Graham R.S and Shihab, Hashem A and Shin, So-Youn and Small, Kerrin and Artigas, M.S and Soranzo, Nicole and Southam, Lorraine and ... and UCLEB Consortium and UK10K Consortium and The UK10K Consortium
Nature (London), ISSN 0028-0836, 10/2015, Volume 526, Issue 7571, pp. 82 - 89
Journal Article