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	161.	The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy. [electronic resource] by Bifari, Inam N Elkhamary, Sahar M Bolz, Hanno J Khan, Arif O Producer: 20170512 In: The British journal of ophthalmology vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	162.	Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis. [electronic resource] by Barbelanne, Marine Song, Jenny Ahmadzai, Mustafa Tsang, William Y Producer: 20131231 In: Human molecular genetics vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	163.	Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies. [electronic resource] by Kakar, Naseebullah Horn, Denise Decker, Eva Sowada, Nadine Kubisch, Christian Ahmad, Jamil Borck, Guntram Bergmann, Carsten Producer: 20190111 In: American journal of medical genetics. Part A vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	164.	Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies. [electronic resource] by Kunova Bosakova, Michaela Varecha, Miroslav Hampl, Marek Duran, Ivan Nita, Alexandru Buchtova, Marcela Dosedelova, Hana Machat, Radek Xie, Yangli Ni, Zhenhong Martin, Jorge H Chen, Lin Jansen, Gert Krakow, Deborah Krejci, Pavel Producer: 20190125 In: Human molecular genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	165.	Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders. [electronic resource] by Radha Rama Devi, Akella Naushad, Shaik Mohammad Lingappa, Lokesh Producer: 20210412 In: Pediatric neurology vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	166.	Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome. [electronic resource] by Ellingford, Jamie M Sergouniotis, Panagiotis I Lennon, Rachel Bhaskar, Sanjeev Williams, Simon G Hillman, Kate A O'Sullivan, James Hall, Georgina Ramsden, Simon C Lloyd, I Christopher Woolf, Adrian S Black, Graeme C M Producer: 20150609 In: Lancet (London, England) vol. 385 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	167.	Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. [electronic resource] by Hammarsjö, A Wang, Z Vaz, R Taylan, F Sedghi, M Girisha, K M Chitayat, D Neethukrishna, K Shannon, P Godoy, R Gowrishankar, K Lindstrand, A Nasiri, J Baktashian, M Newton, P T Guo, L Hofmeister, W Pettersson, M Chagin, A S Nishimura, G Yan, L Matsumoto, N Nordgren, A Miyake, N Grigelioniene, G Ikegawa, S Producer: 20190709 In: Scientific reports vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	168.	Deregulation of Neuro-Developmental Genes and Primary Cilium Cytoskeleton Anomalies in iPSC Retinal Sheets from Human Syndromic Ciliopathies. [electronic resource] by Barabino, Andrea Flamier, Anthony Hanna, Roy Héon, Elise Freedman, Benjamin S Bernier, Gilbert Producer: 20210204 In: Stem cell reports vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	169.	Cilium transition zone proteome reveals compartmentalization and differential dynamics of ciliopathy complexes. [electronic resource] by Dean, Samuel Moreira-Leite, Flavia Varga, Vladimir Gull, Keith Producer: 20180326 In: Proceedings of the National Academy of Sciences of the United States of America vol. 113 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	170.	Spinocerebellar ataxia type 11-associated alleles of Ttbk2 dominantly interfere with ciliogenesis and cilium stability. [electronic resource] by Bowie, Emily Norris, Ryan Anderson, Kathryn V Goetz, Sarah C Producer: 20190304 In: PLoS genetics vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	171.	Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome. [electronic resource] by Katagiri, Satoshi Hayashi, Takaaki Yoshitake, Kazutoshi Murai, Noriyuki Matsui, Zenichi Kubo, Hiroyuki Satoh, Hiroyuki Matsufuji, Senya Takamura, Tsuyoshi Yokoo, Takashi Omori, Yoshihiro Furukawa, Takahisa Iwata, Takeshi Nakano, Tadashi Producer: 20191101 In: Scientific reports vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	172.	Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice. [electronic resource] by Moye, Abigail R Bedoni, Nicola Cunningham, Jessica G Sanzhaeva, Urikhan Tucker, Eric S Mathers, Peter Peter, Virginie G Quinodoz, Mathieu Paris, Liliana P Coutinho-Santos, Luísa Camacho, Pedro Purcell, Madeleine G Winkelmann, Abbie C Foster, James A Pugacheva, Elena N Rivolta, Carlo Ramamurthy, Visvanathan Producer: 20200107 In: PLoS genetics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	173.	The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development. [electronic resource] by Hoff, Sylvia Epting, Daniel Falk, Nathalie Schroda, Sophie Braun, Daniela A Halbritter, Jan Hildebrandt, Friedhelm Kramer-Zucker, Albrecht Bergmann, Carsten Walz, Gerd Lienkamp, Soeren S Producer: 20190304 In: The Journal of biological chemistry vol. 293 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	174.	Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans. [electronic resource] by Shaheen, Ranad Alsahli, Saud Ewida, Nour Alzahrani, Fatema Shamseldin, Hanan E Patel, Nisha Al Qahtani, Awad Alhebbi, Homoud Alhashem, Amal Al-Sheddi, Tarfa Alomar, Rana Alobeid, Eman Abouelhoda, Mohamed Monies, Dorota Al-Hussaini, Abdulrahman Alzouman, Muneerah A Shagrani, Mohammad Faqeih, Eissa Alkuraya, Fowzan S Producer: 20210428 In: Hepatology (Baltimore, Md.) vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	175.	The correlative hypotheses between Pitchfork and Kif3a in palate development. [electronic resource] by Li, Shujin Jin, Shan Jin, Chengri Producer: 20191206 In: Medical hypotheses vol. 126 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	176.	The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate Intraflagellar Transport at the Ciliary Base. [electronic resource] by Kanie, Tomoharu Abbott, Keene Louis Mooney, Nancie Ann Plowey, Edward Douglas Demeter, Janos Jackson, Peter Kent Producer: 20170926 In: Developmental cell vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	177.	Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia. [electronic resource] by Thevenon, J Duplomb, L Phadke, S Eguether, T Saunier, A Avila, M Carmignac, V Bruel, A-L St-Onge, J Duffourd, Y Pazour, G J Franco, B Attie-Bitach, T Masurel-Paulet, A Rivière, J-B Cormier-Daire, V Philippe, C Faivre, L Thauvin-Robinet, C 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)
	178.	Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies. [electronic resource] by Ryan, Rebecca Failler, Marion Reilly, Madeline Louise Garfa-Traore, Meriem Delous, Marion Filhol, Emilie Reboul, Thérèse Bole-Feysot, Christine Nitschké, Patrick Baudouin, Véronique Amselem, Serge Escudier, Estelle Legendre, Marie Benmerah, Alexandre Saunier, Sophie Producer: 20190103 In: Human molecular genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	179.	None [electronic resource] by Lu, Hao Anujan, Priyanka Zhou, Feng Zhang, Yiliu Chong, Yan Ling Bingle, Colin D Roy, Sudipto Producer: 20200106 In: Development (Cambridge, England) vol. 146 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	180.	Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. [electronic resource] by Filges, Isabel Bruder, Elisabeth Brandal, Kristin Meier, Stephanie Undlien, Dag Erik Waage, Trine Rygvold Hoesli, Irene Schubach, Max de Beer, Tjaart Sheng, Ying Hoeller, Sylvia Schulzke, Sven Røsby, Oddveig Miny, Peter Tercanli, Sevgi Oppedal, Truls Meyer, Peter Selmer, Kaja Kristine Strømme, Petter Producer: 20161213 In: Human mutation vol. 37 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.