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	3241.	Comprehensive molecular analysis of arginase-encoding genes in common wheat and its progenitor species. [electronic resource] by She, Maoyun Wang, Jing Wang, Xinmin Yin, Guixiang Wang, Ke Du, Lipu Ye, Xingguo Producer: 20190204 In: Scientific reports vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3242.	Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea. [electronic resource] by Ben Hadj Hmida, Imen Mougou-Zerelli, Soumaya Hadded, Anis Dimassi, Sarra Kammoun, Molka Bignon-Topalovic, Joelle Bibi, Mohamed Saad, Ali Bashamboo, Anu McElreavey, Ken Producer: 20170713 In: Fertility and sterility vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3243.	Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons. [electronic resource] by Matalonga, Leslie Arias, Ángela Tort, Frederic Ferrer-Cortés, Xènia Garcia-Villoria, Judit Coll, Maria Josep Gort, Laura Ribes, Antonia Producer: 20160722 In: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3244.	Novel Mutation in the Class II Transactivator Associated with Immunodeficiency and Autoimmunity. [electronic resource] by Ahmed, Aisha Reith, Walter Puck, Jennifer M Cheng, Laurence E Producer: 20160620 In: Journal of clinical immunology vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3245.	Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations. [electronic resource] by Samanta, Ananya Stingl, Katarina Kohl, Susanne Ries, Jessica Linnert, Joshua Nagel-Wolfrum, Kerstin Producer: 20200430 In: International journal of molecular sciences vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3246.	A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy. [electronic resource] by Chavanas, S Pulkkinen, L Gache, Y Smith, F J McLean, W H Uitto, J Ortonne, J P Meneguzzi, G Producer: 19970123 In: The Journal of clinical investigation vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3247.	Detection of mutations in COL4A5 in patients with Alport syndrome. [electronic resource] by Plant, K E Green, P M Vetrie, D Flinter, F A Producer: 19990323 In: Human mutation vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3248.	Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22. [electronic resource] by Dollfus, H Kumaramanickavel, G Biswas, P Stoetzel, C Quillet, R Denton, M Maw, M Perrin-Schmitt, F Producer: 20011205 In: Journal of medical genetics vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3249.	Nonsense-mediated RNA decay in the TSC1 gene suggests a useful tool pre- and post-positional cloning. [electronic resource] by Jeganathan, Dharini Fox, Margaret F Young, Janet M Yates, John R W Osborne, John P Povey, Sue Producer: 20030122 In: Human genetics vol. 111 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3250.	Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation. [electronic resource] by Fajkusová, L Lukás, Z Tvrdíková, M Kuhrová, V Hájek, J Fajkus, J Producer: 20010628 In: Neuromuscular disorders : NMD vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3251.	Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism. [electronic resource] by Maruyama, M Ikeuchi, T Saito, M Ishikawa, A Yuasa, T Tanaka, H Hayashi, S Wakabayashi, K Takahashi, H Tsuji, S Producer: 20000828 In: Annals of neurology vol. 48 Availability: No items available. Save to lists Add to cart (remove)
	3252.	Genotype-phenotype correlation in inherited severe insulin resistance. [electronic resource] by Longo, Nicola Wang, Yuhuan Smith, Shelley A Langley, Sharon D DiMeglio, Linda A Giannella-Neto, Daniel Producer: 20020830 In: Human molecular genetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3253.	Three novel PAX6 mutations in patients with aniridia. [electronic resource] by Zumkeller, W Orth, U Gal, A Producer: 20031106 In: Molecular pathology : MP vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3254.	Gene symbol: MECP2. Disease: Rett syndrome (atypical). [electronic resource] by Penagarikano, O Martinez-Bouzas, Cristina Mínguez, Mónica Sanz-Parra, Arantza García-Alegría, Eva Beristain, Elena Tejada, M Isabel Producer: 20060321 In: Human genetics vol. 118 Availability: No items available. Save to lists Add to cart (remove)
	3255.	Dystrophin expression in the mdx mouse after localised and systemic administration of a morpholino antisense oligonucleotide. [electronic resource] by Fletcher, Susan Honeyman, Kaite Fall, Abbie M Harding, Penny L Johnsen, Russell D Wilton, Steve D Producer: 20060324 In: The journal of gene medicine vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3256.	Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I. [electronic resource] by Fujioka, H Ariga, T Horiuchi, K Otsu, M Igawa, H Kawashima, K Yamamoto, Y Sugihara, T Sakiyama, Y Producer: 20050712 In: Clinical genetics vol. 67 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3257.	Transcriptional silencing of nonsense codon-containing immunoglobulin micro genes requires translation of its mRNA. [electronic resource] by Stalder, Lukas Mühlemann, Oliver Producer: 20070719 In: The Journal of biological chemistry vol. 282 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3258.	Relation of PCSK9 mutations to serum low-density lipoprotein cholesterol in childhood and adulthood (from The Bogalusa Heart Study). [electronic resource] by Hallman, D Michael Srinivasan, Sathanur R Chen, Wei Boerwinkle, Eric Berenson, Gerald S Producer: 20070816 In: The American journal of cardiology vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3259.	A novel mutation in DAX1 gene causing different phenotypes in three siblings with adrenal hypoplasia congenita. [electronic resource] by Calliari, L E P Longui, C A Rocha, M N Faria, C D C Kochi, C Melo, M R Melo, M B Monte, O Producer: 20070919 In: Genetics and molecular research : GMR vol. 6 Availability: No items available. Save to lists Add to cart (remove)
	3260.	Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran. [electronic resource] by Baradaran-Heravi, Alireza Vakili, Rahim Robins, Tiina Carlsson, Jonas Ghaemi, Nosrat A'rabi, Azadeh Abbaszadegan, Mohammad Reza Producer: 20111027 In: Clinical endocrinology vol. 67 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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