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	3441.	Use of single nucleotide polymorphisms in the plcR gene for specific identification of Bacillus anthracis. [electronic resource] by Easterday, W Ryan Van Ert, Matthew N Simonson, Tatum S Wagner, David M Kenefic, Leo J Allender, Christopher J Keim, Paul Producer: 20050614 In: Journal of clinical microbiology vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3442.	Nonsense mediated decay induced by tethered human UPF3B is restricted to the cytoplasm. [electronic resource] by Lu, Shihua Cullen, Bryan R Producer: 20070212 In: RNA biology vol. 1 Availability: No items available. Save to lists Add to cart (remove)
	3443.	Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. [electronic resource] by Wycisk, Katharina Agnes Zeitz, Christina Feil, Silke Wittmer, Mariana Forster, Ursula Neidhardt, John Wissinger, Bernd Zrenner, Eberhart Wilke, Robert Kohl, Susanne Berger, Wolfgang Producer: 20061204 In: American journal of human genetics vol. 79 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3444.	Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin. [electronic resource] by Linde, Liat Boelz, Stephanie Nissim-Rafinia, Malka Oren, Yifat S Wilschanski, Michael Yaacov, Yasmin Virgilis, Dov Neu-Yilik, Gabriele Kulozik, Andreas E Kerem, Eitan Kerem, Batsheva Producer: 20070504 In: The Journal of clinical investigation vol. 117 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3445.	Nonsense-codon-mediated decay in human hereditary complement C3 deficiency. [electronic resource] by Reis, Edimara S Nudelman, Victor Isaac, Lourdes Producer: 20040330 In: Immunogenetics vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3446.	Xeroderma pigmentosum-variant patients from America, Europe, and Asia. [electronic resource] by Inui, Hiroki Oh, Kyu-Seon Nadem, Carine Ueda, Takahiro Khan, Sikandar G Metin, Ahmet Gozukara, Engin Emmert, Steffen Slor, Hanoch Busch, David B Baker, Carl C DiGiovanna, John J Tamura, Deborah Seitz, Cornelia S Gratchev, Alexei Wu, Wen Hao Chung, Kee Yang Chung, Hye Jin Azizi, Esther Woodgate, Roger Schneider, Thomas D Kraemer, Kenneth H Producer: 20080829 In: The Journal of investigative dermatology vol. 128 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3447.	Functional significance of a truncated thyroid receptor subtype lacking a hormone-binding domain in goldfish. [electronic resource] by Nelson, Erik R Habibi, Hamid R Producer: 20081002 In: Endocrinology vol. 149 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3448.	Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. [electronic resource] by Kloeckener-Gruissem, Barbara Vandekerckhove, Kristof Nürnberg, Gudrun Neidhardt, John Zeitz, Christina Nürnberg, Peter Schipper, Isaak Berger, Wolfgang Producer: 20080328 In: American journal of human genetics vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3449.	Filaggrin mutations confer susceptibility to atopic dermatitis but not to asthma. [electronic resource] by Rogers, Angela J Celedón, Juan C Lasky-Su, Jessica A Weiss, Scott T Raby, Benjamin A Producer: 20080122 In: The Journal of allergy and clinical immunology vol. 120 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3450.	Costeff optic atrophy syndrome: new clinical case and novel molecular findings. [electronic resource] by Ho, G Walter, J H Christodoulou, J Producer: 20120111 In: Journal of inherited metabolic disease vol. 31 Suppl 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3451.	Basal cell nevus syndrome: clinical and genetic diagnosis. [electronic resource] by García de Marcos, José A Dean-Ferrer, Alicia Arroyo Rodríguez, Susana Calderón-Polanco, Javier Alamillos Granados, Francisco J Poblet, Enrique Producer: 20100224 In: Oral and maxillofacial surgery vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3452.	Progressive osseous heteroplasia caused by a novel nonsense mutation in the GNAS1 gene. [electronic resource] by Goto, Masahiro Mabe, Hiroyo Nishimura, Gen Katsumata, Noriyuki Producer: 20100603 In: Journal of pediatric endocrinology & metabolism : JPEM vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3453.	Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients. [electronic resource] by Tappino, Barbara Chuzhanova, Nadia A Regis, Stefano Dardis, Andrea Corsolini, Fabio Stroppiano, Marina Tonoli, Emmanuel Beccari, Tommaso Rosano, Camillo Mucha, Jan Blanco, Mariana Szlago, Marina Di Rocco, Maja Cooper, David N Filocamo, Mirella Producer: 20100225 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3454.	NMD: a multifaceted response to premature translational termination. [electronic resource] by Kervestin, Stephanie Jacobson, Allan Producer: 20130108 In: Nature reviews. Molecular cell biology vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3455.	TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. [electronic resource] by Boileau, Catherine Guo, Dong-Chuan Hanna, Nadine Regalado, Ellen S Detaint, Delphine Gong, Limin Varret, Mathilde Prakash, Siddharth K Li, Alexander H d'Indy, Hyacintha Braverman, Alan C Grandchamp, Bernard Kwartler, Callie S Gouya, Laurent Santos-Cortez, Regie Lyn P Abifadel, Marianne Leal, Suzanne M Muti, Christine Shendure, Jay Gross, Marie-Sylvie Rieder, Mark J Vahanian, Alec Nickerson, Deborah A Michel, Jean Baptiste Jondeau, Guillaume Milewicz, Dianna M Producer: 20121009 In: Nature genetics vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3456.	Allelic expression imbalance of TP53 mutated and polymorphic alleles in head and neck tumors. [electronic resource] by Ganci, Federica Conti, Salvatore Fontemaggi, Giulia Manciocco, Valentina Donzelli, Sara Covello, Renato Muti, Paola Strano, Sabrina Blandino, Giovanni Spriano, Giuseppe Producer: 20110920 In: Omics : a journal of integrative biology vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3457.	Yeast Upf1 CH domain interacts with Rps26 of the 40S ribosomal subunit. [electronic resource] by Min, Ei Ei Roy, Bijoyita Amrani, Nadia He, Feng Jacobson, Allan Producer: 20130927 In: RNA (New York, N.Y.) vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3458.	SETD2 histone modifier loss in aggressive GI stromal tumours. [electronic resource] by Huang, Kie Kyon McPherson, John R Tay, Su Ting Das, Kakoli Tan, Iain Beehuat Ng, Cedric Chuan Young Chia, Na-Yu Zhang, Shen Li Myint, Swe Swe Hu, Longyu Rajasegaran, Vikneswari Huang, Dachuan Loh, Jia Liang Gan, Anna Sairi, Alisa Noor Hidayah Sam, Xin Xiu Dominguez, Lourdes Trinidad Lee, Minghui Soo, Khee Chee Ooi, London Lucien Peng Jin Ong, Hock Soo Chung, Alexander Chow, Pierce Kah-Hoe Wong, Wai Keong Selvarajan, Sathiyamoorthy Ong, Choon Kiat Lim, Kiat Hon Nandi, Tannistha Rozen, Steve Teh, Bin Tean Quek, Richard Tan, Patrick Producer: 20170801 In: Gut vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3459.	Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene. [electronic resource] by Khan, Muzammil Ahmad Rupp, Verena Khan, Muhammad Ayaz Khan, Muhammad Pervaiz Ansar, Muhammad Windpassinger, Christian Producer: 20150408 In: Journal of genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3460.	Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection. [electronic resource] by Izawa, Kazushi Martin, Emmanuel Soudais, Claire Bruneau, Julie Boutboul, David Rodriguez, Rémy Lenoir, Christelle Hislop, Andrew D Besson, Caroline Touzot, Fabien Picard, Capucine Callebaut, Isabelle de Villartay, Jean-Pierre Moshous, Despina Fischer, Alain Latour, Sylvain Producer: 20170810 In: The Journal of experimental medicine vol. 214 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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