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	5461.	Insights into the recruitment of the NMD machinery from the crystal structure of a core EJC-UPF3b complex. [electronic resource] by Buchwald, Gretel Ebert, Judith Basquin, Claire Sauliere, Jerome Jayachandran, Uma Bono, Fulvia Le Hir, Hervé Conti, Elena Producer: 20100629 In: Proceedings of the National Academy of Sciences of the United States of America vol. 107 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5462.	The genetics of dilated cardiomyopathy: a prioritized candidate gene study of LMNA, TNNT2, TCAP, and PLN. [electronic resource] by Hirtle-Lewis, Marika Desbiens, Katia Ruel, Isabelle Rudzicz, Nicholas Genest, Jacques Engert, James C Giannetti, Nadia Producer: 20140526 In: Clinical cardiology vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5463.	Autosomal dominant polycystic kidney disease in University Clinic of Nephrology and Haemodialysis of Cotonou: clinical and genetical findings. [electronic resource] by Laleye, A Awede, B Agboton, B Azonbakin, S Biaou, O Sagbo, G Adjagba, M Audrezet, M P Ferec, C Darboux, R Producer: 20130404 In: Genetic counseling (Geneva, Switzerland) vol. 23 Availability: No items available. Save to lists Add to cart (remove)
	5464.	A novel homozygous stop-codon mutation in human HFE responsible for nonsense-mediated mRNA decay. [electronic resource] by Padula, Maria Carmela Martelli, Giuseppe Larocca, Marilena Rossano, Rocco Olivieri, Attilio Producer: 20150330 In: Blood cells, molecules & diseases vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5465.	A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene. [electronic resource] by Grandchamp, Bernard Hetet, Gilles Kannengiesser, Caroline Oudin, Claire Beaumont, Carole Rodrigues-Ferreira, Sylvie Amson, Robert Telerman, Adam Nielsen, Peter Kohne, Elisabeth Balser, Christina Heimpel, Hermann Producer: 20120316 In: Blood vol. 118 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5466.	A novel Xp22.13 microdeletion in Nance-Horan syndrome. [electronic resource] by Accogli, Andrea Traverso, Monica Madia, Francesca Bellini, Tommaso Vari, Maria Stella Pinto, Francesca Capra, Valeria Producer: 20180529 In: Birth defects research vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5467.	Adenovirus-mediated truncated Bid overexpression induced by the Cre/LoxP system promotes the cell apoptosis of CD133+ ovarian cancer stem cells. [electronic resource] by Long, Qifang Yang, Ru Lu, Weixian Zhu, Weipei Zhou, Jundong Zheng, Cui Zhou, Dongmei Yu, Ling Wu, Jinchang Producer: 20170410 In: Oncology reports vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5468.	None [electronic resource] by Cindrić, Sandra Dougherty, Gerard W Olbrich, Heike Hjeij, Rim Loges, Niki Tomas Amirav, Israel Philipsen, Maria C Marthin, June K Nielsen, Kim G Sutharsan, Sivagurunathan Raidt, Johanna Werner, Claudius Pennekamp, Petra Dworniczak, Bernd Omran, Heymut Producer: 20200727 In: American journal of respiratory cell and molecular biology vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5469.	Caenorhabditis elegans lin-13, a member of the LIN-35 Rb class of genes involved in vulval development, encodes a protein with zinc fingers and an LXCXE motif. [electronic resource] by Meléndez, A Greenwald, I Producer: 20000821 In: Genetics vol. 155 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5470.	Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications. [electronic resource] by Alonso, J García-Miguel, P Abelairas, J Mendiola, M Sarret, E Vendrell, M T Navajas, A Pestaña, A Producer: 20010830 In: Human mutation vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5471.	Familial cancer associated with a polymorphism in ARLTS1. [electronic resource] by Calin, George Adrian Trapasso, Francesco Shimizu, Masayoshi Dumitru, Calin Dan Yendamuri, Sai Godwin, Andrew K Ferracin, Manuela Bernardi, Guido Chatterjee, Devjani Baldassarre, Gustavo Rattan, Shashi Alder, Hansjuerg Mabuchi, Hideaki Shiraishi, Takeshi Hansen, Lise Lotte Overgaard, Jens Herlea, Vlad Mauro, Francesca Romana Dighiero, Guillaume Movsas, Benjamin Rassenti, Laura Kipps, Thomas Baffa, Raffaele Fusco, Alfredo Mori, Masaki Russo, Giandomenico Liu, Chang-Gong Neuberg, Donna Bullrich, Florencia Negrini, Massimo Croce, Carlo M Producer: 20050502 In: The New England journal of medicine vol. 352 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5472.	Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression. [electronic resource] by Sen-Chowdhry, Srijita Syrris, Petros Ward, Deirdre Asimaki, Angeliki Sevdalis, Elias McKenna, William J Producer: 20070423 In: Circulation vol. 115 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5473.	Identification of protein Salpha gene mutations including four novel mutations in eight unrelated patients with protein S deficiency. [electronic resource] by Okada, Hiromi Takagi, Akira Murate, Takashi Adachi, Tatsuya Yamamoto, Koji Matsushita, Tadashi Takamatsu, Junki Sugita, Kanji Sugimoto, Mitsuhiko Yoshioka, Akira Yamazaki, Tomio Saito, Hidehiko Kojima, Tetsuhito Producer: 20040831 In: British journal of haematology vol. 126 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5474.	NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets. [electronic resource] by Caldas, Hugo Herman, Gail E Producer: 20040708 In: Human molecular genetics vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5475.	Loss of function associated with novel mutations of the SCN5A gene in patients with Brugada syndrome. [electronic resource] by Baroudi, Ghayath Napolitano, Carlo Priori, Silvia G Del Bufalo, Alessandro Chahine, Mohamed Producer: 20040603 In: The Canadian journal of cardiology vol. 20 Availability: No items available. Save to lists Add to cart (remove)
	5476.	Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. [electronic resource] by Schwarze, Ulrike Hata, Ryu-Ichiro McKusick, Victor A Shinkai, Hiroshi Hoyme, H Eugene Pyeritz, Reed E Byers, Peter H Producer: 20040603 In: American journal of human genetics vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5477.	Mutations in chemosensory cilia cause resistance to paraquat in nematode Caenorhabditis elegans. [electronic resource] by Fujii, Michihiko Matsumoto, Yuki Tanaka, Nanae Miki, Kensuke Suzuki, Toshikazu Ishii, Naoaki Ayusawa, Dai Producer: 20040615 In: The Journal of biological chemistry vol. 279 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5478.	E-cadherin germline missense mutations and cell phenotype: evidence for the independence of cell invasion on the motile capabilities of the cells. [electronic resource] by Suriano, Gianpaolo Oliveira, Maria José Huntsman, David Mateus, Ana Rita Ferreira, Paulo Casares, Fernando Oliveira, Carla Carneiro, Fátima Machado, Josée Carlos Mareel, Marc Seruca, Raquel Producer: 20040708 In: Human molecular genetics vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5479.	Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay. [electronic resource] by Fang, Peng Schwartz, I David Johnson, Betty D Derr, Michael A Roberts, Charles T Hwa, Vivian Rosenfeld, Ron G Producer: 20090528 In: The Journal of clinical endocrinology and metabolism vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5480.	Genetic and epigenetic alterations of the reduced folate carrier in untreated diffuse large B-cell lymphoma. [electronic resource] by Kastrup, Ingelise Bjerring Worm, Jesper Ralfkiaer, Elisabeth Hokland, Peter Guldberg, Per Grønbaek, Kirsten Producer: 20080130 In: European journal of haematology vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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