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	141.	Acute pancreatitis: a rare complication in a patient with senior loken syndrome. [electronic resource] by Abidi, Kamel Jallouli, Manel Naija, Ouns Zarrouk, Chokri Gargah, Tahar Producer: 20160715 In: Arab journal of nephrology and transplantation vol. 7 Availability: No items available. Save to lists Add to cart (remove)
	142.	Checking NEKs: Overcoming a Bottleneck in Human Diseases. [electronic resource] by Peres de Oliveira, Andressa Kazuo Issayama, Luidy Betim Pavan, Isadora Carolina Riback Silva, Fernando Diniz Melo-Hanchuk, Talita Moreira Simabuco, Fernando Kobarg, Jörg Producer: 20210203 In: Molecules (Basel, Switzerland) vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	143.	Expanding Phenotype of Nephronophthisis-Related Ciliopathy: an Elderly Patient with Homozygous RPGRIP1L Mutation. [electronic resource] by Kawaguchi, Takahisa Yoshida, Tadashi Hirahashi, Junichi Uehara, Tomoko Takenouchi, Toshiki Kosaki, Kenjiro Itoh, Hiroshi Hayashi, Matsuhiko Producer: 20190930 In: Nephron vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	144.	Nephronophthisis and retinal degeneration in tmem218-/- mice: a novel mouse model for Senior-Løken syndrome? [electronic resource] by Vogel, P Gelfman, C M Issa, T Payne, B J Hansen, G M Read, R W Jones, C Pitcher, M R Ding, Z-M DaCosta, C M Shadoan, M K Vance, R B Powell, D R Producer: 20160419 In: Veterinary pathology vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	145.	Transcriptional regulation of multiciliated cell differentiation. [electronic resource] by Lewis, Michael Stracker, Travis H Producer: 20220117 In: Seminars in cell & developmental biology vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	146.	Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel. [electronic resource] by Al-Hamed, Mohamed H Kurdi, Wesam Alsahan, Nada Alabdullah, Zainab Abudraz, Rania Tulbah, Maha Alnemer, Maha Khan, Rubina Al-Jurayb, Haya Alahmed, Ahmed Tahir, Asma I Khalil, Dania Edwards, Noel Al Abdulaziz, Basma Binhumaid, Faisal S Majid, Salma Faquih, Tariq El-Kalioby, Mohamed Abouelhoda, Mohamed Altassan, Nada Monies, Dorota Meyer, Brian Sayer, John A Albaqumi, Mamdouh Producer: 20170825 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)
	147.	Characterizing the morbid genome of ciliopathies. [electronic resource] by Shaheen, Ranad Szymanska, Katarzyna Basu, Basudha Patel, Nisha Ewida, Nour Faqeih, Eissa Al Hashem, Amal Derar, Nada Alsharif, Hadeel Aldahmesh, Mohammed A Alazami, Anas M Hashem, Mais Ibrahim, Niema Abdulwahab, Firdous M Sonbul, Rawda Alkuraya, Hisham Alnemer, Maha Al Tala, Saeed Al-Husain, Muneera Morsy, Heba Seidahmed, Mohammed Zain Meriki, Neama Al-Owain, Mohammed AlShahwan, Saad Tabarki, Brahim Salih, Mustafa A Faquih, Tariq El-Kalioby, Mohamed Ueffing, Marius Boldt, Karsten Logan, Clare V Parry, David A Al Tassan, Nada Monies, Dorota Megarbane, Andre Abouelhoda, Mohamed Halees, Anason Johnson, Colin A Alkuraya, Fowzan S Producer: 20170621 In: Genome biology vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	148.	Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation. [electronic resource] by Ronquillo, Cecinio C Hanke-Gogokhia, Christin Revelo, Monica P Frederick, Jeanne M Jiang, Li Baehr, Wolfgang Producer: 20170908 In: FASEB journal : official publication of the Federation of American Societies for Experimental Biology vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	149.	CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis. [electronic resource] by Tsai, Jhih-Jie Hsu, Wen-Bin Liu, Jia-Hua Chang, Ching-Wen Tang, Tang K Producer: 20201007 In: Scientific reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	150.	Protein Syndesmos is a novel RNA-binding protein that regulates primary cilia formation. [electronic resource] by Avolio, Rosario Järvelin, Aino I Mohammed, Shabaz Agliarulo, Ilenia Condelli, Valentina Zoppoli, Pietro Calice, Giovanni Sarnataro, Daniela Bechara, Elias Tartaglia, Gian G Landriscina, Matteo Castello, Alfredo Esposito, Franca Matassa, Danilo S Producer: 20190722 In: Nucleic acids research vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	151.	Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies. [electronic resource] by Harel, Tamar Griffin, John N Arbogast, Thomas Monroe, Tanner O Palombo, Flavia Martinelli, Marcella Seri, Marco Pippucci, Tommaso Elpeleg, Orly Katsanis, Nicholas Producer: 20210812 In: Human molecular genetics vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	152.	Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype. [electronic resource] by Takenouchi, Toshiki Kuchikata, Tomu Yoshihashi, Hiroshi Fujiwara, Mineko Uehara, Tomoko Miyama, Sahoko Yamada, Shiro Kosaki, Kenjiro Producer: 20170508 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	153.	IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis. [electronic resource] by Chekuri, Anil Guru, Aditya A Biswas, Pooja Branham, Kari Borooah, Shyamanga Soto-Hermida, Angel Hicks, Michael Khan, Naheed W Matsui, Hiroko Alapati, Akhila Raghavendra, Pongali B Roosing, Susanne Sarangapani, Sripriya Mathavan, Sinnakaruppan Telenti, Amalio Heckenlively, John R Riazuddin, S Amer Frazer, Kelly A Sieving, Paul A Ayyagari, Radha Producer: 20190326 In: Human genetics vol. 137 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	154.	Divergent roles of the Wnt/PCP Formin Daam1 in renal ciliogenesis. [electronic resource] by Corkins, Mark E Krneta-Stankic, Vanja Kloc, Malgorzata McCrea, Pierre D Gladden, Andrew B Miller, Rachel K Producer: 20200311 In: PloS one vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	155.	Fundus Examination Pointing to the Diagnosis of Senior-Loken Syndrome. [electronic resource] by Sergouniotis, Panagiotis I Hadfield, Kristen D Black, Graeme C Producer: 20180820 In: JAMA ophthalmology vol. 134 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	156.	The cholangiocyte primary cilium in health and disease. [electronic resource] by Mansini, Adrian P Peixoto, Estanislao Thelen, Kristen M Gaspari, Cesar Jin, Sujeong Gradilone, Sergio A Producer: 20181211 In: Biochimica et biophysica acta. Molecular basis of disease vol. 1864 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	157.	Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies. [electronic resource] by Tsai, I-Chun Adams, Kevin A Tzeng, Joyce A Shennib, Omar Tan, Perciliz L Katsanis, Nicholas Producer: 20201019 In: JCI insight vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	158.	Defective ciliogenesis in INPP5E-related Joubert syndrome. [electronic resource] by Hardee, Isabel Soldatos, Ariane Davids, Mariska Vilboux, Thierry Toro, Camilo David, Karen L Ferreira, Carlos R Nehrebecky, Michele Snow, Joseph Thurm, Audrey Heller, Theo Macnamara, Ellen F Gunay-Aygun, Meral Zein, Wadih M Gahl, William A Malicdan, May Christine V Producer: 20180321 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	159.	The Ciliopathy Gene ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and Survival. [electronic resource] by Lessieur, Emma M Fogerty, Joseph Gaivin, Robert J Song, Ping Perkins, Brian D Producer: 20170623 In: Investigative ophthalmology & visual science vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	160.	A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. [electronic resource] by Girisha, K M Shukla, A Trujillano, D Bhavani, G S Hebbar, M Kadavigere, R Rolfs, A Producer: 20170707 In: Clinical genetics vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 234 results.