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	201.	Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. [electronic resource] by Stone, Edwin M Cideciyan, Artur V Aleman, Tomas S Scheetz, Todd E Sumaroka, Alexander Ehlinger, Mary A Schwartz, Sharon B Fishman, Gerald A Traboulsi, Elias I Lam, Byron L Fulton, Anne B Mullins, Robert F Sheffield, Val C Jacobson, Samuel G Producer: 20110210 In: Archives of ophthalmology (Chicago, Ill. : 1960) vol. 129 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	202.	Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome. [electronic resource] by Roosing, Susanne Rosti, Rasim O Rosti, Basak de Vrieze, Erik Silhavy, Jennifer L van Wijk, Erwin Wakeling, Emma Gleeson, Joseph G Producer: 20170621 In: Human genetics vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	203.	Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature. [electronic resource] by Antony, Dinu Nampoory, Narayanan Bacchelli, Chiara Melhem, Motasem Wu, Kaman James, Chela T Beales, Philip L Hubank, Mike Thomas, Daisy Mashankar, Anant Behbehani, Kazem Schmidts, Miriam Alsmadi, Osama Producer: 20180326 In: European journal of medical genetics vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	204.	Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish. [electronic resource] by Estrada-Cuzcano, Alejandro Etard, Christelle Delvallée, Clarisse Stoetzel, Corinne Schaefer, Elise Scheidecker, Sophie Geoffroy, Véronique Schneider, Aline Studer, Fouzia Mattioli, Francesca Chennen, Kirsley Sigaudy, Sabine Plassard, Damien Poch, Olivier Piton, Amélie Strahle, Uwe Muller, Jean Dollfus, Hélène Producer: 20210519 In: Human mutation vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	205.	Mutations in TTC21B cause different phenotypes in two childhood cases in China. [electronic resource] by Zhang, Hongwen Su, Baige Liu, Xiaoyu Xiao, Huijie Ding, Jie Yao, Yong Producer: 20180904 In: Nephrology (Carlton, Vic.) vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	206.	Binary Function of ARL3-GTP Revealed by Gene Knockouts. [electronic resource] by Hanke-Gogokhia, Christin Frederick, Jeanne M Zhang, Houbin Baehr, Wolfgang Producer: 20190506 In: Advances in experimental medicine and biology vol. 1074 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	207.	Acute liver failure secondary to opportunistic viral infection in adult solid organ transplant recipients. [electronic resource] by Claridge, L C Dobson, C Kanji, H Neil, D Timms, J M Holt, A P Producer: 20130116 In: QJM : monthly journal of the Association of Physicians vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	208.	Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. [electronic resource] by Roosing, Susanne Romani, Marta Isrie, Mala Rosti, Rasim Ozgur Micalizzi, Alessia Musaev, Damir Mazza, Tommaso Al-Gazali, Lihadh Altunoglu, Umut Boltshauser, Eugen D'Arrigo, Stefano De Keersmaecker, Bart Kayserili, Hülya Brandenberger, Sarah Kraoua, Ichraf Mark, Paul R McKanna, Trudy Van Keirsbilck, Joachim Moerman, Philippe Poretti, Andrea Puri, Ratna Van Esch, Hilde Gleeson, Joseph G Valente, Enza Maria Producer: 20171031 In: Journal of medical genetics vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	209.	Ulk4 Is Essential for Ciliogenesis and CSF Flow. [electronic resource] by Liu, Min Guan, Zhenlong Shen, Qin Lalor, Pierce Fitzgerald, Una O'Brien, Timothy Dockery, Peter Shen, Sanbing Producer: 20170711 In: The Journal of neuroscience : the official journal of the Society for Neuroscience vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	210.	A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance. [electronic resource] by Chivukula, Raghu R Montoro, Daniel T Leung, Hui Min Yang, Jason Shamseldin, Hanan E Taylor, Martin S Dougherty, Gerard W Zariwala, Maimoona A Carson, Johnny Daniels, M Leigh Anne Sears, Patrick R Black, Katharine E Hariri, Lida P Almogarri, Ibrahim Frenkel, Evgeni M Vinarsky, Vladimir Omran, Heymut Knowles, Michael R Tearney, Guillermo J Alkuraya, Fowzan S Sabatini, David M Producer: 20200421 In: Nature medicine vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	211.	Zfp423 Regulates Sonic Hedgehog Signaling via Primary Cilium Function. [electronic resource] by Hong, Chen-Jei Hamilton, Bruce A Producer: 20170509 In: PLoS genetics vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	212.	OFD1, as a Ciliary Protein, Exhibits Neuroprotective Function in Photoreceptor Degeneration Models. [electronic resource] by Wang, Juan Chen, Xin Wang, Fang Zhang, Jieping Li, Peng Li, Zongyi Xu, Jingying Gao, Furong Jin, Caixia Tian, Haibin Zhang, Jingfa Li, Weiye Lu, Lixia Xu, Guo-Tong Producer: 20170714 In: PloS one vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	213.	WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. [electronic resource] by Kim, Yeon-Joo Osborn, Daniel Ps Lee, Ji-Young Araki, Masatake Araki, Kimi Mohun, Timothy Känsäkoski, Johanna Brandstack, Nina Kim, Hyun-Taek Miralles, Francesc Kim, Cheol-Hee Brown, Nigel A Kim, Hyung-Goo Martinez-Barbera, Juan Pedro Ataliotis, Paris Raivio, Taneli Layman, Lawrence C Kim, Soo-Hyun Producer: 20190114 In: EMBO reports vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	214.	Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes. [electronic resource] by Castro-Sánchez, Sheila Álvarez-Satta, María Tohamy, Mohamed A Beltran, Sergi Derdak, Sophia Valverde, Diana Producer: 20171006 In: PloS one vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	215.	New Insights into Cystic Kidney Diseases. [electronic resource] by Mochizuki, Toshio Makabe, Shiho Aoyama, Yumi Kataoka, Hiroshi Nitta, Kosaku Producer: 20190612 In: Contributions to nephrology vol. 195 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	216.	WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. [electronic resource] by Coussa, R G Otto, E A Gee, H-Y Arthurs, P Ren, H Lopez, I Keser, V Fu, Q Faingold, R Khan, A Schwartzentruber, J Majewski, J Hildebrandt, F Koenekoop, R K Producer: 20140221 In: Clinical genetics vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	217.	A novel ciliopathic skull defect arising from excess neural crest. [electronic resource] by Tabler, Jacqueline M Rice, Christopher P Liu, Karen J Wallingford, John B Producer: 20170531 In: Developmental biology vol. 417 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	218.	A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi. [electronic resource] by Stoetzel, Corinne Bär, Séverine De Craene, Johan-Owen Scheidecker, Sophie Etard, Christelle Chicher, Johana Reck, Jennifer R Perrault, Isabelle Geoffroy, Véronique Chennen, Kirsley Strähle, Uwe Hammann, Philippe Friant, Sylvie Dollfus, Hélène Producer: 20180924 In: Nature communications vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	219.	Inpp5e suppresses polycystic kidney disease via inhibition of PI3K/Akt-dependent mTORC1 signaling. [electronic resource] by Hakim, Sandra Dyson, Jennifer M Feeney, Sandra J Davies, Elizabeth M Sriratana, Absorn Koenig, Monica N Plotnikova, Olga V Smyth, Ian M Ricardo, Sharon D Hobbs, Robin M Mitchell, Christina A Producer: 20170925 In: Human molecular genetics vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	220.	Bardet-Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations. [electronic resource] by Morisada, Naoya Hamada, Riku Miura, Kenichiro Ye, Ming Juan Nozu, Kandai Hattori, Motoshi Iijima, Kazumoto Producer: 20210831 In: CEN case reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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