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	1841.	One Novel Frameshift Mutation on Exon 64 of COL7A1 Gene in an Iranian Individual Suffering Recessive Dystrophic Epidermolysis Bullosa. [electronic resource] by Khaniani, Mahmoud Shekari Sohrabi, Nasrin Derakhshan, Neda Mansoori Derakhshan, Sima Mansoori Producer: 20161005 In: Annals of clinical and laboratory science vol. 45 Availability: No items available. Save to lists Add to cart (remove)
	1842.	A Nonsense Mutation in Mycobacterium marinum That Is Suppressible by a Novel Mechanism. [electronic resource] by Williams, Emily A Mba Medie, Felix Bosserman, Rachel E Johnson, Benjamin K Reyna, Cristal Ferrell, Micah J Champion, Matthew M Abramovitch, Robert B Champion, Patricia A Producer: 20170518 In: Infection and immunity vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1843.	Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome. [electronic resource] by Arnaud, Pauline Hanna, Nadine Aubart, Mélodie Leheup, Bruno Dupuis-Girod, Sophie Naudion, Sophie Lacombe, Didier Milleron, Olivier Odent, Sylvie Faivre, Laurence Bal, Laurence Edouard, Thomas Collod-Beroud, Gwenaëlle Langeois, Maud Spentchian, Myrtille Gouya, Laurent Jondeau, Guillaume Boileau, Catherine Producer: 20171120 In: Journal of medical genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1844.	Exploring the readthrough of nonsense mutations by non-acidic Ataluren analogues selected by ligand-based virtual screening. [electronic resource] by Pibiri, Ivana Lentini, Laura Tutone, Marco Melfi, Raffaella Pace, Andrea Di Leonardo, Aldo Producer: 20170216 In: European journal of medicinal chemistry vol. 122 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1845.	THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage. [electronic resource] by Santiago-Sim, Teresa Fang, Xiaoqian Hennessy, Morgan L Nalbach, Stephen V DePalma, Steven R Lee, Ming Sum Greenway, Steven C McDonough, Barbara Hergenroeder, Georgene W Patek, Kyla J Colosimo, Sarah M Qualmann, Krista J Hagan, John P Milewicz, Dianna M MacRae, Calum A Dymecki, Susan M Seidman, Christine E Seidman, J G Kim, Dong H Producer: 20170609 In: Stroke vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1846.	Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss. [electronic resource] by Ramzan, Khushnooda Bin-Abbas, Bassam Al-Jomaa, Lolwa Allam, Rabab Al-Owain, Mohammed Imtiaz, Faiqa Producer: 20180308 In: BMC endocrine disorders vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1847.	Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree. [electronic resource] by Kooshavar, Daniz Razipour, Masoumeh Movasat, Morteza Keramatipour, Mohammad Producer: 20180116 In: International journal of pediatric otorhinolaryngology vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1848.	Upf proteins: highly conserved factors involved in nonsense mRNA mediated decay. [electronic resource] by Gupta, Puneet Li, Yan-Ruide Producer: 20180703 In: Molecular biology reports vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1849.	Identification of a single MPV17 nonsense-associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy. [electronic resource] by Meldau, S De Lacy, R J Riordan, G T M Goddard, E A Pillay, K Fieggen, K J Marais, A D Van der Watt, G F Producer: 20190925 In: Clinical genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1850.	Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome. [electronic resource] by Lee, Way Seah Teo, Kai Ming Ng, Ruey Terng Chong, Sze Yee Kee, Boon Pin Chua, Kek Heng Producer: 20170103 In: Gene vol. 586 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1851.	New insights into the performance of multigene panel testing: Two novel nonsense variants in BRIP1 and TP53 in a young woman with breast cancer. [electronic resource] by Castillo-Guardiola, Verónica Sarabia-Meseguer, M Desamparados Marín-Vera, Miguel Sánchez-Bermúdez, Ana Isabel Alonso-Romero, José Luis Noguera-Velasco, José Antonio Ruiz-Espejo, Francisco Producer: 20190429 In: Cancer genetics vol. 228-229 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1852.	A Premature Stop Codon in RAF1 Is the Priority Candidate Causative Mutation of the Inherited Chicken [electronic resource] by Youngworth, Ingrid Delany, Mary E Producer: 20200106 In: Genes vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1853.	Chronic pancreatitis with polycystic kidney disease: A rare coincidence? [electronic resource] by Hrčková, Gabriela Hegyi, Eszter Skalická, Katarína Čierna, Iveta Dallos, Tomáš Ilenčíková, Denisa Producer: 20210611 In: Nefrologia vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1854.	Homozygous gene conversion in von Willebrand factor gene as a cause of type 3 von Willebrand disease and predisposition to inhibitor development. [electronic resource] by Surdhar, G K Enayat, M S Lawson, S Williams, M D Hill, F G Producer: 20010726 In: Blood vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1855.	Studies toward the site specific incorporation of sugars into proteins: synthesis of glycosylated aminoacyl-tRNAs. [electronic resource] by Fahmi, N E Golovine, S Wang, B Hecht, S M Producer: 20010719 In: Carbohydrate research vol. 330 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1856.	Frameshift, nonsense and non amino acid altering mutations in SOD1 in familial ALS: report of a Japanese pedigree and literature review. [electronic resource] by Watanabe, Y Kato, S Adachi, Y Nakashima, K Producer: 20010816 In: Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1857.	Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2). [electronic resource] by Webster, K E Ferree, P M Holmes, R P Cramer, S D Producer: 20001027 In: Human genetics vol. 107 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1858.	UPF3 suppresses aberrant spliced mRNA in Arabidopsis. [electronic resource] by Hori, Koichi Watanabe, Yuichiro Producer: 20051025 In: The Plant journal : for cell and molecular biology vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1859.	Hypofibrinogenemia caused by a nonsense mutation in the fibrinogen Bbeta chain gene. [electronic resource] by Mimuro, J Hamano, A Tanaka, T Madoiwa, K S Sugo, T Matsuda, M Sakata, Y Producer: 20040914 In: Journal of thrombosis and haemostasis : JTH vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1860.	Mutational analysis of BRCA1 and BRCA2 genes in Mexican breast cancer patients. [electronic resource] by Vidal-Millán, S Taja-Chayeb, L Gutiérrez-Hernández, O Ramírez Ugalde, M T Robles-Vidal, C Bargallo-Rocha, E Mohar-Betancourt, A Dueñas-González, A Producer: 20091208 In: European journal of gynaecological oncology vol. 30 Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 5852 results.