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	901.	An intronic mutation c.6430-3C>G in the F8 gene causes splicing efficiency and premature termination in hemophilia A. [electronic resource] by Xia, Zunjing Lin, Jie Lu, Lingping Kim, Chol Yu, Ping Qi, Ming Producer: 20180925 In: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	902.	Generation of an induced pluripotent stem cell line (UBCi001-A) from a presymptomatic individual carrying the R418X progranulin gene mutation. [electronic resource] by Frew, J Wu, X Hsiung, G Y Feldman, H H Mackenzie, I R Nygaard, H B Producer: 20200701 In: Stem cell research vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	903.	Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel [electronic resource] by Ceccarini, Giovanni Magno, Silvia Pelosini, Caterina Ferrari, Federica Sessa, Maria Rita Scabia, Gaia Maffei, Margherita Jéru, Isabelle Lascols, Olivier Vigouroux, Corinne Santini, Ferruccio Producer: 20210203 In: Frontiers in endocrinology vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	904.	A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene. [electronic resource] by Feldmann, D Laroze, F Troadec, C Clement, A Tournier, G Couderc, R Producer: 20010816 In: Human mutation vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	905.	Recognition of yeast mRNAs as "nonsense containing" leads to both inhibition of mRNA translation and mRNA degradation: implications for the control of mRNA decapping. [electronic resource] by Muhlrad, D Parker, R Producer: 19991209 In: Molecular biology of the cell vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	906.	[Regulation of mRNA stability in eukaryotic cells]. [electronic resource] by Uchida, Naoyuki Hoshino, Shin-Ichi Katada, Toshiaki Shyu, Ann-Bin Producer: 20031027 In: Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme vol. 48 Availability: No items available. Save to lists Add to cart (remove)
	907.	Expression, characterization and immunolocalization of translation termination factor eRF3 in the ciliate Euplotes octocarinatus. [electronic resource] by Chai, Bao-Feng Wang, Wei Liang, Ai-Hua Producer: 20060630 In: Research in microbiology vol. 157 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	908.	An unappreciated role for RNA surveillance. [electronic resource] by Hillman, R Tyler Green, Richard E Brenner, Steven E Producer: 20050323 In: Genome biology vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	909.	The effects of alternative splicing on transmembrane proteins in the mouse genome. [electronic resource] by Cline, M S Shigeta, R Wheeler, R L Siani-Rose, M A Kulp, D Loraine, A E Producer: 20040602 In: Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing p. 17-28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	910.	Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. [electronic resource] by Maquat, Lynne E Producer: 20040407 In: Nature reviews. Molecular cell biology vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	911.	Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature. [electronic resource] by Joss, Shelagh K Ghazawy, Sam Tomkins, Susan Ahmed, Mushtaq Bradbury, John Sheridan, Eamonn Producer: 20080807 In: European journal of pediatrics vol. 167 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	912.	High frequency of the TCRBV20S1 null allele in the Sardinian population. [electronic resource] by Bonfigli, Silvana Fozza, Claudio Contini, Salvatore Buzzetti, Raffaella Cucca, Francesco Longinotti, Maurizio Producer: 20070626 In: Human immunology vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	913.	A novel KERA mutation associated with autosomal recessive cornea plana. [electronic resource] by Khan, Arif Al-Saif, Amr Kambouris, Marios Producer: 20041214 In: Ophthalmic genetics vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	914.	The allele MICB 0050204, over-represented in the Caucasian population, has an additional exon resulting from a new splice junction sequence. [electronic resource] by Martínez-Borra, Jesús Rodrigo, Luis Rodríguez-Rodero, Sandra Fernandez-Morera, Juan Luis Diaz-Peña, Roberto Pruneda, Laura López-Vázquez, Antonio López-Larrea, Carlos Producer: 20071101 In: Human immunology vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	915.	Gene symbol: CRB1. [electronic resource] by Vallespin, E Millan, J M Riveiro-Alvarez, R Aguirre-Lamban, J Cantalapiedra, D Gallego, J Trujillo-Tiebas, M J Ayuso, C Producer: 20070502 In: Human genetics vol. 120 Availability: No items available. Save to lists Add to cart (remove)
	916.	Two novel mutations of the nicastrin gene in Chinese patients with acne inversa. [electronic resource] by Li, C-R Jiang, M-J Shen, D-B Xu, H-X Wang, H-S Yao, X Zhang, Y Zhou, W-Q Wang, B Producer: 20111017 In: The British journal of dermatology vol. 165 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	917.	Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis. [electronic resource] by Terrinoni, A Serra, V Codispoti, A Talamonti, E Bui, L Palombo, R Sette, M Campione, E Didona, B Annicchiarico-Petruzzelli, M Zambruno, G Melino, G Candi, E Producer: 20130531 In: Cell death & disease vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	918.	A novel nonsense mutation in the N-terminal domain of the androgen receptor gene causes complete androgen insensitivity syndrome. [electronic resource] by Cai, Z Li, Z S Liu, X Y Producer: 20130122 In: Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	919.	Nonsense-mediated mRNA decay (NMD) blockage promotes nonsense mRNA stabilization in protein 4.1R deficient cells carrying the 4.1R Coimbra variant of hereditary elliptocytosis. [electronic resource] by Morinière, Madeleine Delhommeau, François Calender, Alain Ribeiro, Leticia Delaunay, Jean Baklouti, Faouzi Producer: 20110323 In: Blood cells, molecules & diseases vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	920.	Survival of a male mosaic for PORCN mutation with mild focal dermal hypoplasia phenotype. [electronic resource] by Yoshihashi, Hiroshi Ohki, Hirotaka Torii, Chiharu Ishiko, Akira Kosaki, Kenjiro Producer: 20120201 In: Pediatric dermatology vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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