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	5281.	Inherited MST1 deficiency underlies susceptibility to EV-HPV infections. [electronic resource] by Crequer, Amandine Picard, Capucine Patin, Etienne D'Amico, Aurelia Abhyankar, Avinash Munzer, Martine Debré, Marianne Zhang, Shen-Ying de Saint-Basile, Geneviève Fischer, Alain Abel, Laurent Orth, Gérard Casanova, Jean-Laurent Jouanguy, Emmanuelle Producer: 20130207 In: PloS one vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5282.	Recurrent left atrial myxomas in Carney complex: a genetic cause of multiple strokes that can be prevented. [electronic resource] by Briassoulis, George Kuburovic, Vladimir Xekouki, Paraskevi Patronas, Nicholas Keil, Meg F Lyssikatos, Charalampos Stajevic, Mila Kovacevic, Gordana Stratakis, Constantine A Producer: 20130423 In: Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5283.	Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial. [electronic resource] by Kerem, Eitan Konstan, Michael W De Boeck, Kris Accurso, Frank J Sermet-Gaudelus, Isabelle Wilschanski, Michael Elborn, J Stuart Melotti, Paola Bronsveld, Inez Fajac, Isabelle Malfroot, Anne Rosenbluth, Daniel B Walker, Patricia A McColley, Susanna A Knoop, Christiane Quattrucci, Serena Rietschel, Ernst Zeitlin, Pamela L Barth, Jay Elfring, Gary L Welch, Ellen M Branstrom, Arthur Spiegel, Robert J Peltz, Stuart W Ajayi, Temitayo Rowe, Steven M Producer: 20150330 In: The Lancet. Respiratory medicine vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5284.	Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase. [electronic resource] by Shen, Sherry Sujirakul, Tharikarn Tsang, Stephen H Producer: 20150811 In: Ophthalmic genetics vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5285.	Gene mutation profiling of primary glioblastoma through multiple tumor biopsy guided by 1H-magnetic resonance spectroscopy. [electronic resource] by Tang, Chao Guo, Jun Chen, Hong Yao, Cheng-Jun Zhuang, Dong-Xiao Wang, Yin Tang, Wei-Jun Ren, Guang Yao, Yu Wu, Jin-Song Mao, Ying Zhou, Liang-Fu Producer: 20160419 In: International journal of clinical and experimental pathology vol. 8 Availability: No items available. Save to lists Add to cart (remove)
	5286.	Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease. [electronic resource] by French, Curtis R Seshadri, Sudha Destefano, Anita L Fornage, Myriam Arnold, Corey R Gage, Philip J Skarie, Jonathan M Dobyns, William B Millen, Kathleen J Liu, Ting Dietz, William Kume, Tsutomu Hofker, Marten Emery, Derek J Childs, Sarah J Waskiewicz, Andrew J Lehmann, Ordan J Producer: 20150302 In: The Journal of clinical investigation vol. 124 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5287.	Suppression of hepcidin expression and iron overload mediate Salmonella susceptibility in ankyrin 1 ENU-induced mutant. [electronic resource] by Yuki, Kyoko E Eva, Megan M Richer, Etienne Chung, Dudley Paquet, Marilène Cellier, Mathieu Canonne-Hergaux, François Vaulont, Sophie Vidal, Silvia M Malo, Danielle Producer: 20130719 In: PloS one vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5288.	Clinical and molecular characterization of McArdle's disease in Brazilian patients. [electronic resource] by Gurgel-Giannetti, Juliana Nogales-Gadea, Gisela van der Linden, Hélio Bellard, Túlio Marcus Ribeiro Brasileiro Filho, Geraldo Giannetti, Alexandre Varella de Castro Concentino, Eralda Luiza Vainzof, Mariz Producer: 20140415 In: Neuromolecular medicine vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5289.	Multifocal Paraganglioma and Pheochromocytoma Due to Truncated SDHD Mutation. [electronic resource] by Zuo, Yuzhi Li, Xiaoxin Wu, Xingcheng Zhou, Jing Wang, Jianyi Wang, Jing Wu, Zhihong Li, Hanzhong Zhang, Xuebin Producer: 20181212 In: Urology vol. 116 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5290.	Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis. [electronic resource] by Ben-Rebeh, Imen Grati, Mhamed Bonnet, Crystel Bouassida, Walid Hadjamor, Imen Ayadi, Hammadi Ghorbel, Abdelmonem Petit, Christine Masmoudi, Saber Producer: 20180115 In: Molecular vision vol. 22 Availability: No items available. Save to lists Add to cart (remove)
	5291.	Rare case of nephrocalcinosis in the distal tubules caused by hereditary renal hypouricaemia 3 months after kidney transplantation. [electronic resource] by Okabayashi, Yusuke Yamamoto, Izumi Komatsuzaki, Yo Niikura, Takahito Yamakawa, Takafumi Katsumata, Haruki Kawabe, Mayuko Katsuma, Ai Nakada, Yasuyuki Kobayashi, Akimitsu Koike, Yusuke Miki, Jun Yamada, Hiroki Tanno, Yudo Ohkido, Ichiro Tsuboi, Nobuo Ichida, Kimiyoshi Yamamoto, Hiroyasu Yokoo, Takashi Producer: 20170227 In: Nephrology (Carlton, Vic.) vol. 21 Suppl 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5292.	Phenotype associated with an R120X nonsense mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa. [electronic resource] by Mashima, Y Saga, M Akeo, K Oguchi, Y Producer: 20010621 In: Ophthalmic genetics vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5293.	Effects of Nf2 missense mutations on schwannomin interactions. [electronic resource] by Scoles, Daniel R Chen, Mercy Pulst, Stefan-M Producer: 20020225 In: Biochemical and biophysical research communications vol. 290 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5294.	Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease. [electronic resource] by Moosajee, Mariya Gregory-Evans, Kevin Ellis, Charles D Seabra, Miguel C Gregory-Evans, Cheryl Y Producer: 20090716 In: Human molecular genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5295.	Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. [electronic resource] by Renbaum, Paul Kellerman, Efrat Jaron, Ranit Geiger, Dan Segel, Reeval Lee, Ming King, Mary Claire Levy-Lahad, Ephrat Producer: 20090923 In: American journal of human genetics vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5296.	Native graS mutation supports the susceptibility of Staphylococcus aureus strain SG511 to antimicrobial peptides. [electronic resource] by Sass, Peter Bierbaum, Gabriele Producer: 20090803 In: International journal of medical microbiology : IJMM vol. 299 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5297.	A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion. [electronic resource] by Pop, Ramona Zaragoza, Michael V Gaudette, Mara Dohrmann, Ulrike Scherer, Gerd Producer: 20050719 In: Human genetics vol. 117 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5298.	Transposon-mediated linker insertion scanning mutagenesis of the Escherichia coli McrA endonuclease. [electronic resource] by Anton, Brian P Raleigh, Elisabeth A Producer: 20040921 In: Journal of bacteriology vol. 186 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5299.	The lba1 mutation of UPF1 RNA helicase involved in nonsense-mediated mRNA decay causes pleiotropic phenotypic changes and altered sugar signalling in Arabidopsis. [electronic resource] by Yoine, Masato Ohto, Masa-aki Onai, Kiyoshi Mita, Satoru Nakamura, Kenzo Producer: 20060928 In: The Plant journal : for cell and molecular biology vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5300.	Alternative splicing and nonsense-mediated mRNA decay in the regulation of a new adenomatous polyposis coli transcript. [electronic resource] by De Rosa, Marina Morelli, Gemma Cesaro, Elena Duraturo, Francesca Turano, Mimmo Rossi, Giovanni B Delrio, Paolo Izzo, Paola Producer: 20070626 In: Gene vol. 395 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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