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	3661.	A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1. [electronic resource] by Giuffrida, Maria G Mastromoro, Gioia Guida, Valentina Truglio, Mauro Fabbretti, Maria Torres, Barbara Mazza, Tommaso De Luca, Alessandro Roggini, Mario Bernardini, Laura Pizzuti, Antonio Producer: 20210104 In: American journal of medical genetics. Part A vol. 182 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3662.	Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon. [electronic resource] by Lykke-Andersen, J Shu, M D Steitz, J A Producer: 20010322 In: Cell vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3663.	Alternatively spliced TCR mRNA induced by disruption of reading frame. [electronic resource] by Wang, Jun Hamilton, John I Carter, Mark S Li, Shulin Wilkinson, Miles F Producer: 20020729 In: Science (New York, N.Y.) vol. 297 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3664.	Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results. [electronic resource] by Politano, L Nigro, G Nigro, V Piluso, G Papparella, S Paciello, O Comi, L I Producer: 20031003 In: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology vol. 22 Availability: No items available. Save to lists Add to cart (remove)
	3665.	Isolation of Lactococcus lactis nonsense suppressors and construction of a food-grade cloning vector. [electronic resource] by Dickely, F Nilsson, D Hansen, E B Johansen, E Producer: 19950731 In: Molecular microbiology vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3666.	[Gene diagnosis of X-linked agammaglobulinemia]. [electronic resource] by Wang, Xiao-chuan Wang, Ying Kanegane, Hirokazu Toshio, Miyawaki Yu, Ye-heng Producer: 20100715 In: Zhonghua er ke za zhi = Chinese journal of pediatrics vol. 43 Availability: No items available. Save to lists Add to cart (remove)
	3667.	A novel nonsense mutation in GCK exon 9 co-segregates with diabetes phenotype. [electronic resource] by Knebel, B Jacob, S Boxberg, C V Müller-Wieland, D Kotzka, J Producer: 20041217 In: Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association vol. 112 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3668.	Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1. [electronic resource] by Horiuchi, Katsumi Ariga, Tadashi Fujioka, Hirotaka Kawashima, Kunihiro Yamamoto, Yuhei Igawa, Hiroharu Sakiyama, Yukio Sugihara, Tsuneki Producer: 20050112 In: American journal of medical genetics. Part A vol. 128A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3669.	Novel nonsense mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome. [electronic resource] by Kunishima, Shinji Matsushita, Tadashi Ito, Takahiko Kamiya, Tadashi Saito, Hidehiko Producer: 20021231 In: American journal of hematology vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3670.	Novel mutations in three patients with LGMD2C with phenotypic differences. [electronic resource] by Vermeer, Sascha Verrips, Aad Willemsen, Michèl A A P ter Laak, Henk J Ginjaar, Ieke B Hamel, Ben C J Producer: 20040802 In: Pediatric neurology vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3671.	Molecular genotyping of hemophilia A in Saudi Arabia: report of 2 novel mutations. [electronic resource] by Owaidah, Tarek M Alkhail, Hala Aba Zahrani, Hazzaa Al Musa, Abdulrahaman Al Saleh, Mahasen Al Riash, Mahmoud Abu Alodaib, Ali Abu Amero, Khalid Producer: 20091222 In: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3672.	Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent. [electronic resource] by Saechao, Chai Valles-Ayoub, Yadira Esfandiarifard, Saghi Haghighatgoo, Arman No, Daniel Shook, Steven Mendell, Jerry R Rosales-Quintero, Xiomara Felice, Kevin J Morel, Chantal F Pietruska, Marvin Darvish, Daniel Producer: 20100729 In: Genetic testing and molecular biomarkers vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3673.	A study of the role of the Myocyte-specific Enhancer Factor-2A gene in coronary artery disease. [electronic resource] by Elhawari, Samar Al-Boudari, Olyan Muiya, Paul Khalak, Hanif Andres, Editha Al-Shahid, Maie Al-Dosari, Mohammed Meyer, Brian F Al-Mohanna, Futwan Dzimiri, Nduna Producer: 20100604 In: Atherosclerosis vol. 209 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3674.	DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy. [electronic resource] by Flanigan, Kevin M Dunn, Diane M von Niederhausern, Andrew Howard, Michael T Mendell, Jerry Connolly, Anne Saunders, Carol Modrcin, Ann Dasouki, Majed Comi, Giacomo P Del Bo, Roberto Pickart, Angela Jacobson, Richard Finkel, Richard Medne, Livija Weiss, Robert B Producer: 20100105 In: Neuromuscular disorders : NMD vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3675.	Novel SCN5A mutation (Q55X) associated with age-dependent expression of Brugada syndrome presenting as neurally mediated syncope. [electronic resource] by Makita, Naomasa Sumitomo, Naokata Watanabe, Ichiro Tsutsui, Hiroyuki Producer: 20070817 In: Heart rhythm vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3676.	Drug-induced readthrough of premature stop codons leads to the stabilization of laminin alpha2 chain mRNA in CMD myotubes. [electronic resource] by Allamand, Valérie Bidou, Laure Arakawa, Masayuki Floquet, Célia Shiozuka, Masataka Paturneau-Jouas, Marion Gartioux, Corine Butler-Browne, Gillian S Mouly, Vincent Rousset, Jean-Pierre Matsuda, Ryoichi Ikeda, Daishiro Guicheney, Pascale Producer: 20080418 In: The journal of gene medicine vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3677.	Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis. [electronic resource] by Sermet-Gaudelus, Isabelle Boeck, Kris De Casimir, Georges J Vermeulen, François Leal, Teresinha Mogenet, Agnès Roussel, Delphine Fritsch, Janine Hanssens, Laurence Hirawat, Samit Miller, Nilsen L Constantine, Scott Reha, Allen Ajayi, Temitayo Elfring, Gary L Miller, Langdon L Producer: 20101203 In: American journal of respiratory and critical care medicine vol. 182 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3678.	Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene. [electronic resource] by Sharifi, Yassi Tjon-Fo-Sang, Martha J Cruysberg, Johannes R M Maat-Kievit, Anneke J Producer: 20130617 In: The British journal of ophthalmology vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3679.	ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm. [electronic resource] by Yahyavi, Mani Abouzeid, Hana Gawdat, Ghada de Preux, Anne-Sophie Xiao, Tong Bardakjian, Tanya Schneider, Adele Choi, Alex Jorgenson, Eric Baier, Herwig El Sada, Mohamad Schorderet, Daniel F Slavotinek, Anne M Producer: 20140206 In: Human molecular genetics vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3680.	Mutation-dependent effects on mRNA and protein expressions in cultured keratinocytes of Hailey-Hailey disease. [electronic resource] by Matsuda, Mitsuhiro Hamada, Takahiro Numata, Sanae Teye, Kwesi Okazawa, Hiromi Imafuku, Shinichi Ohata, Chika Furumura, Minao Hashimoto, Takashi Producer: 20150407 In: Experimental dermatology vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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