Your search returned 5852 results.

Results
	3801.	Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome. [electronic resource] by McAlinden, Audrey Majava, Marja Bishop, Paul N Perveen, Rahat Black, Graeme C M Pierpont, Mary Ella Ala-Kokko, Leena Männikkö, Minna Producer: 20080206 In: Human mutation vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3802.	A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. [electronic resource] by Duncan, Andrew J Bitner-Glindzicz, Maria Meunier, Brigitte Costello, Harry Hargreaves, Iain P López, Luis C Hirano, Michio Quinzii, Catarina M Sadowski, Michael I Hardy, John Singleton, Andrew Clayton, Peter T Rahman, Shamima Producer: 20090609 In: American journal of human genetics vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3803.	Neurofibromatosis 2 leads to higher incidence of strabismological and neuro-ophthalmological disorders. [electronic resource] by Feucht, Matthias Griffiths, Birgit Niemüller, Ilka Haase, Wolfgang Richard, Gisbert Mautner, Victor-Felix Producer: 20090224 In: Acta ophthalmologica vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3804.	Genome-wide mapping of alternative splicing in Arabidopsis thaliana. [electronic resource] by Filichkin, Sergei A Priest, Henry D Givan, Scott A Shen, Rongkun Bryant, Douglas W Fox, Samuel E Wong, Weng-Keen Mockler, Todd C Producer: 20100325 In: Genome research vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3805.	Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. [electronic resource] by Gerards, Mike Kamps, Rick van Oevelen, Jo Boesten, Iris Jongen, Eveline de Koning, Bart Scholte, Hans R de Angst, Isabel Schoonderwoerd, Kees Sefiani, Abdelaziz Ratbi, Ilham Coppieters, Wouter Karim, Latifa de Coo, René van den Bosch, Bianca Smeets, Hubert Producer: 20130423 In: Brain : a journal of neurology vol. 136 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3806.	Fast homozygosity mapping and identification of a zebrafish ENU-induced mutation by whole-genome sequencing. [electronic resource] by Voz, Marianne L Coppieters, Wouter Manfroid, Isabelle Baudhuin, Ariane Von Berg, Virginie Charlier, Carole Meyer, Dirk Driever, Wolfgang Martial, Joseph A Peers, Bernard Producer: 20120823 In: PloS one vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3807.	Mineralocorticoid receptor mutations and a severe recessive pseudohypoaldosteronism type 1. [electronic resource] by Hubert, Edwige-Ludiwyne Teissier, Raphaël Fernandes-Rosa, Fábio L Fay, Michel Rafestin-Oblin, Marie-Edith Jeunemaitre, Xavier Metz, Chantal Escoubet, Brigitte Zennaro, Maria-Christina Producer: 20111221 In: Journal of the American Society of Nephrology : JASN vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3808.	The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy. [electronic resource] by Miller, Jake N Kovács, Attila D Pearce, David A Producer: 20150824 In: Human molecular genetics vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3809.	A Nonsense Variant in COL6A1 in Landseer Dogs with Muscular Dystrophy. [electronic resource] by Steffen, Frank Bilzer, Thomas Brands, Jan Golini, Lorenzo Jagannathan, Vidhya Wiedmer, Michaela Drögemüller, Michaela Drögemüller, Cord Leeb, Tosso Producer: 20160915 In: G3 (Bethesda, Md.) vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3810.	Loss of FUBP1 expression in gliomas predicts FUBP1 mutation and is associated with oligodendroglial differentiation, IDH1 mutation and 1p/19q loss of heterozygosity. [electronic resource] by Baumgarten, P Harter, P N Tönjes, M Capper, D Blank, A-E Sahm, F von Deimling, A Kolluru, V Schwamb, B Rabenhorst, U Starzetz, T Kögel, D Rieker, R J Plate, K H Ohgaki, H Radlwimmer, B Zörnig, M Mittelbronn, M Producer: 20140910 In: Neuropathology and applied neurobiology vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3811.	Ataluren and similar compounds (specific therapies for premature termination codon class I mutations) for cystic fibrosis. [electronic resource] by Aslam, Aisha A Higgins, Colin Sinha, Ian P Southern, Kevin W Producer: 20170407 In: The Cochrane database of systematic reviews vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3812.	Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment. [electronic resource] by Wesdorp, Mieke van de Kamp, Jiddeke M Hensen, Erik F Schraders, Margit Oostrik, Jaap Yntema, Helger G Feenstra, Ilse Admiraal, Ronald J C Kunst, Henricus P M Tekin, Mustafa Kanaan, Moien Kremer, Hannie Pennings, Ronald J E Producer: 20180305 In: Hearing research vol. 347 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3813.	Exome sequencing reveals a novel nonsense mutation of GLI3 in a Chinese family with 'non-syndromic' pre-axial polydactyly. [electronic resource] by Xiang, Ying Wang, Zhigang Bian, Jingxia Xu, Yunlan Fu, Qihua Producer: 20170406 In: Journal of human genetics vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3814.	Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses. [electronic resource] by Vanlander, Arnaud V Muiño Mosquera, Laura Panzer, Joseph Deconinck, Tine Smet, Joél Seneca, Sara Van Dorpe, Jo Ferdinande, Liesbeth Ceuterick-de Groote, Chantal De Jonghe, Peter Van Coster, Rudy Baets, Jonathan Producer: 20161213 In: Mitochondrion vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3815.	Truncating Wilms Tumor Suppressor Gene 1 Mutation in an XX Female with Adult-Onset Focal Segmental Glomerulosclerosis and Streak Ovaries: A Case Report. [electronic resource] by Hoefele, Julia Kemper, Markus J Schoenermarck, Ulf Mueller, Susanna Klein, Hanns-Georg Lemke, Anja Producer: 20170309 In: Nephron vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3816.	The presence of KRAS, PPP2R1A and ARID1A mutations in 101 Chinese samples with ovarian endometriosis. [electronic resource] by Zou, Yang Zhou, Jiang-Yan Guo, Jiu-Bai Wang, Li-Qun Luo, Yong Zhang, Zi-Yu Liu, Fa-Ying Tan, Jun Wang, Feng Huang, Ou-Ping Producer: 20190219 In: Mutation research vol. 809 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3817.	Severe high-molecular-weight kininogen deficiency due to a homozygous c.1456C > T nonsense variant in a large Chinese family. [electronic resource] by Yang, Jing Fan, Liankai Qiao, Yacui Zhao, Yongqiang Zhu, Tienan Producer: 20210816 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)
	3818.	Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia. [electronic resource] by Yang, Qi Xu, Hong Luo, Jingsi Li, Mengting Yi, Sheng Zhang, Qinle Geng, Guoxing Feng, Shihan Fan, Xin Producer: 20200504 In: BMC medical genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3819.	Landscape of BRIP1 molecular lesions in gastrointestinal cancers from published genomic studies. [electronic resource] by Voutsadakis, Ioannis A Producer: 20210106 In: World journal of gastroenterology vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3820.	Defective proteasome biogenesis into skin fibroblasts isolated from Rett syndrome subjects with MeCP2 non-sense mutations. [electronic resource] by Sbardella, Diego Tundo, Grazia Raffaella Cunsolo, Vincenzo Grasso, Giuseppe Cascella, Raffaella Caputo, Valerio Santoro, Anna Maria Milardi, Danilo Pecorelli, Alessandra Ciaccio, Chiara Di Pierro, Donato Leoncini, Silvia Campagnolo, Luisa Pironi, Virginia Oddone, Francesco Manni, Priscilla Foti, Salvatore Giardina, Emiliano De Felice, Claudio Hayek, Joussef Curatolo, Paolo Galasso, Cinzia Valacchi, Giuseppe Coletta, Massimiliano Graziani, Grazia Marini, Stefano Producer: 20210105 In: Biochimica et biophysica acta. Molecular basis of disease vol. 1866 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.