Your search returned 5852 results.

Results
	2901.	Homozygous inactivation of the MEN1 gene as a specific somatic event in a case of secondary hyperparathyroidism. [electronic resource] by Forsberg, L Villablanca, A Välimäki, S Farnebo, F Farnebo, L O Lagercrantz, S Larsson, C Producer: 20011204 In: European journal of endocrinology vol. 145 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2902.	Identification of the Arabidopsis palmitoyl-monogalactosyldiacylglycerol delta7-desaturase gene FAD5, and effects of plastidial retargeting of Arabidopsis desaturases on the fad5 mutant phenotype. [electronic resource] by Heilmann, Ingo Mekhedov, Sergei King, Barbara Browse, John Shanklin, John Producer: 20050211 In: Plant physiology vol. 136 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2903.	Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients. [electronic resource] by Montfort, Magda Chabás, Amparo Vilageliu, Lluïsa Grinberg, Daniel Producer: 20060504 In: Blood cells, molecules & diseases vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2904.	The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations. [electronic resource] by Bach, Gideon Webb, Michael B T Bargal, Ruth Zeigler, Marcia Ekstein, Joseph Producer: 20060613 In: Human mutation vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2905.	GS3, a major QTL for grain length and weight and minor QTL for grain width and thickness in rice, encodes a putative transmembrane protein. [electronic resource] by Fan, Chuchuan Xing, Yongzhong Mao, Hailiang Lu, Tingting Han, Bin Xu, Caiguo Li, Xianghua Zhang, Qifa Producer: 20060613 In: TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik vol. 112 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2906.	Respiratory chain supercomplexes set the threshold for respiration defects in human mtDNA mutant cybrids. [electronic resource] by D'Aurelio, Marilena Gajewski, Carl D Lenaz, Giorgio Manfredi, Giovanni Producer: 20060905 In: Human molecular genetics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2907.	Varied truncation and clustering characterize some short repeats identified in micronucleus-specific DNA of Tetrahymena thermophila. [electronic resource] by Huvos, Piroska Producer: 20091202 In: Gene vol. 448 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2908.	A case of WHIM syndrome associated with diabetes and hypothyroidism. [electronic resource] by Takaya, Junji Fujii, Yuri Higashino, Hirohiko Taniuchi, Shoichiro Nakamura, Makiko Kaneko, Kazunari Producer: 20100201 In: Pediatric diabetes vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2909.	Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. [electronic resource] by Tuffery-Giraud, Sylvie Béroud, Christophe Leturcq, France Yaou, Rabah Ben Hamroun, Dalil Michel-Calemard, Laurence Moizard, Marie-Pierre Bernard, Rafaëlle Cossée, Mireille Boisseau, Pierre Blayau, Martine Creveaux, Isabelle Guiochon-Mantel, Anne de Martinville, Bérengère Philippe, Christophe Monnier, Nicole Bieth, Eric Khau Van Kien, Philippe Desmet, François-Olivier Humbertclaude, Véronique Kaplan, Jean-Claude Chelly, Jamel Claustres, Mireille Producer: 20090813 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2910.	Fertility defects revealing germline biallelic nonsense NBN mutations. [electronic resource] by Warcoin, Mathilde Lespinasse, James Despouy, Gilles Dubois d'Enghien, Catherine Laugé, Anthony Portnoï, Marie-France Christin-Maitre, Sophie Stoppa-Lyonnet, Dominique Stern, Marc Henri Producer: 20090528 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2911.	A nonsense exon in the Tpm1 gene is silenced by hnRNP H and F. [electronic resource] by Coles, Joel L Hallegger, Martina Smith, Christopher W J Producer: 20090206 In: RNA (New York, N.Y.) vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2912.	Upf1 potentially serves as a RING-related E3 ubiquitin ligase via its association with Upf3 in yeast. [electronic resource] by Takahashi, Shinya Araki, Yasuhiro Ohya, Yuriko Sakuno, Takeshi Hoshino, Shin-Ichi Kontani, Kenji Nishina, Hiroshi Katada, Toshiaki Producer: 20080909 In: RNA (New York, N.Y.) vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2913.	A novel mutation in the SACS gene associated with a complicated form of spastic ataxia. [electronic resource] by Masciullo, Marcella Modoni, Anna Fattori, Fabiana Santoro, Massimo Denora, Paola S Tonali, Pietro Santorelli, Filippo M Silvestri, Gabriella Producer: 20090223 In: Journal of neurology vol. 255 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2914.	Aminoglycoside antibiotics restore functional expression of truncated HERG channels produced by nonsense mutations. [electronic resource] by Yao, Yan Teng, Siyong Li, Ning Zhang, Yinhui Boyden, Penelope A Pu, Jielin Producer: 20090707 In: Heart rhythm vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2915.	Association analysis of filaggrin gene mutations and atopic dermatitis in Northern China. [electronic resource] by Ma, L Zhang, L Di, Z-H Zhao, L-P Lu, Y-N Xu, J Chen, H-D Gao, X-H Producer: 20100524 In: The British journal of dermatology vol. 162 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2916.	Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping. [electronic resource] by Wein, Nicolas Avril, Aurélie Bartoli, Marc Beley, Cyriaque Chaouch, Soraya Laforêt, Pascal Behin, Anthony Butler-Browne, Gillian Mouly, Vincent Krahn, Martin Garcia, Luis Lévy, Nicolas Producer: 20100422 In: Human mutation vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2917.	Inhibition of nonsense-mediated mRNA decay by the natural product pateamine A through eukaryotic initiation factor 4AIII. [electronic resource] by Dang, Yongjun Low, Woon-Kai Xu, Jing Gehring, Niels H Dietz, Harry C Romo, Daniel Liu, Jun O Producer: 20091019 In: The Journal of biological chemistry vol. 284 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2918.	The codon 37 (TGG-->TAG) beta(0)-thalassemia mutation found in a Chinese family. [electronic resource] by Li, Dongzhi Liao, Can Li, Jian Tang, Xuewei Producer: 20060829 In: Hemoglobin vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2919.	Characterization of a unique mutant lysE gene, originating from Corynebacterium glutamicum, encoding a product that induces L-lysine production in Methylophilus methylotrophus. [electronic resource] by Gunji, Yoshiya Ito, Hisao Masaki, Haruhiko Yasueda, Hisashi Producer: 20070305 In: Bioscience, biotechnology, and biochemistry vol. 70 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2920.	Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation. [electronic resource] by Carod-Artal, F J Herrero, M D Lara, M C López-Gallardo, E Ruiz-Pesini, E Martí, R Montoya, J Producer: 20070521 In: European journal of neurology vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Refine your search

Availability

Authors

Topics

Languages

Your search returned 5852 results.