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	2461.	Engineered transfer RNAs for suppression of premature termination codons. [electronic resource] by Lueck, John D Yoon, Jae Seok Perales-Puchalt, Alfredo Mackey, Adam L Infield, Daniel T Behlke, Mark A Pope, Marshall R Weiner, David B Skach, William R McCray, Paul B Ahern, Christopher A Producer: 20190415 In: Nature communications vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2462.	Novel non-sense mutation in RP2 (c.843_844insT/p.Arg282fs) is associated with a severe phenotype of retinitis pigmentosa without evidence of primary retinal pigment epithelium involvement. [electronic resource] by Horner, Faye Wawrzynski, James MacLaren, Robert E Producer: 20191206 In: BMJ case reports vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2463.	Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers. [electronic resource] by Marangi, Giuseppe Garcovich, Simone Sante, Gabriele Di Orteschi, Daniela Frangella, Silvia Scaldaferri, Franco Genuardi, Maurizio Peris, Ketty Gurrieri, Fiorella Zollino, Marcella Producer: 20201116 In: Acta dermato-venereologica vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2464.	Congenital hypofibrinogenemia associated with a novel heterozygous nonsense mutation in the globular C-terminal domain of the γ-chain (p.Glu275Stop). [electronic resource] by Simurda, Tomas Caccia, Sonia Asselta, Rosanna Zolkova, Jana Stasko, Jan Skornova, Ingrid Snahnicanova, Zuzana Loderer, Dusan Lasabova, Zora Kubisz, Peter Producer: 20210415 In: Journal of thrombosis and thrombolysis vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2465.	A Nonsense Variant in the [electronic resource] by Lepori, Vincent Mühlhause, Franziska Sewell, Adrian C Jagannathan, Vidhya Janzen, Nils Rosati, Marco Alves de Sousa, Filipe Miguel Maximiano Tschopp, Aurélie Schüpbach, Gertraud Matiasek, Kaspar Tipold, Andrea Leeb, Tosso Kornberg, Marion Producer: 20181102 In: G3 (Bethesda, Md.) vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2466.	A novel PAX6 mutation causes congenital aniridia with or without retinal detachment. [electronic resource] by Mirrahimi, Mehraban Sabbaghi, Hamideh Ahmadieh, Hamid Jahanmard, Mehdi Hassanpour, Kiana Suri, Fatemeh Producer: 20200313 In: Ophthalmic genetics vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2467.	Glycogen Storage Disease Type IV Diagnosed at Fetal Autopsy. [electronic resource] by Butler, Daniel C Glen, W Bailey Schandl, Cynthia Phillips, Angelina Producer: 20210412 In: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2468.	A novel nonsense mutation in the L1CAM gene responsible for X-linked congenital hydrocephalus. [electronic resource] by Guo, Dewei Shi, Yuting Jian, Wenyan Fu, Yimei Yang, Hui Guo, Manhui Yong, Wenjing Chen, Gang Deng, Huan Qin, Yan Liao, Weihua Yao, Ruojin Producer: 20210719 In: The journal of gene medicine vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2469.	Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2. [electronic resource] by He, Chenhao Liu, Xinyu Zhong, Zilin Chen, Jianjun Producer: 20201120 In: BMC ophthalmology vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2470.	Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. [electronic resource] by Rech, Megan E McCarthy, John M Chen, Chun-An Edmond, Jane C Shah, Veeral S Bosch, Daniëlle G M Berry, Gerard T Williams, Linford Madan-Khetarpal, Suneeta Niyazov, Dmitriy Shaw-Smith, Charles Kovar, Erin M Lupo, Philip J Schaaf, Christian P Producer: 20210128 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)
	2471.	PTEN mutation in a family with Cowden syndrome and autism. [electronic resource] by Goffin, A Hoefsloot, L H Bosgoed, E Swillen, A Fryns, J P Producer: 20010906 In: American journal of medical genetics vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2472.	Transient temporal lobe changes and a novel mutation in a patient with Menkes disease. [electronic resource] by Ozawa, H Kodama, H Murata, Y Takashima, S Noma, S Producer: 20011004 In: Pediatrics international : official journal of the Japan Pediatric Society vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2473.	Von Willebrand's disease caused by compound heterozygosity for a substitution mutation (T1156M) in the D3 domain of the von Willebrand factor and a stop mutation (Q2470X). [electronic resource] by Lethagen, Stefan Isaksson, Christina Schaedel, Charlotta Holmberg, Lars Producer: 20030825 In: Thrombosis and haemostasis vol. 88 Availability: No items available. Save to lists Add to cart (remove)
	2474.	Genetic background affects relative nonsense mRNA accumulation in wild-type and upf mutant yeast strains. [electronic resource] by Kebaara, Bessie Nazarenus, Tara Taylor, Rachel Atkin, Audrey L Producer: 20040219 In: Current genetics vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2475.	Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype. [electronic resource] by Patronas, N J Courcoutsakis, N Bromley, C M Katzman, G L MacCollin, M Parry, D M Producer: 20010517 In: Radiology vol. 218 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2476.	Mutations in the COL4A4 gene in thin basement membrane disease. [electronic resource] by Buzza, Mark Dagher, Hayat Wang, Yan Yan Wilson, Diane Babon, Jeffrey J Cotton, Richard G Savige, Judy Producer: 20040413 In: Kidney international vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2477.	Identification of inactivating mutations in the JAK1, SYNJ2, and CLPTM1 genes in prostate cancer cells using inhibition of nonsense-mediated decay and microarray analysis. [electronic resource] by Rossi, Michael R Hawthorn, Lesleyann Platt, Julie Burkhardt, Tania Cowell, John K Ionov, Yurij Producer: 20051006 In: Cancer genetics and cytogenetics vol. 161 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2478.	Nonsense mutations: running the red light. [electronic resource] by Ainsworth, Claire Producer: 20051229 In: Nature vol. 438 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2479.	Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. [electronic resource] by Peat, Rachel A Baker, Naomi L Jones, Kristi J North, Kathryn N Lamandé, Shireen R Producer: 20070831 In: Neuromuscular disorders : NMD vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2480.	Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy. [electronic resource] by Baris, Olivier Delettre, Cécile Amati-Bonneau, Patrizia Surget, Marie-Odile Charlin, Jean-François Catier, Antoine Derieux, Laurence Guyomard, Jean-Laurent Dollfus, Hélène Jonveaux, Philippe Ayuso, Carmen Maumenee, Irene Lorenz, Birgit Mohammed, Shehla Tourmen, Yves Bonneau, Dominique Malthièry, Yves Hamel, Christian Reynier, Pascal Producer: 20040303 In: Human mutation vol. 21 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 5852 results.