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	2781.	Magnetic resonance spectroscopy in a 9-day-old heterozygous female child with creatine transporter deficiency. [electronic resource] by Cecil, Kim M DeGrauw, Ton J Salomons, Gajja S Jakobs, Cornelis Egelhoff, John C Clark, Joseph F Producer: 20030212 In: Journal of computer assisted tomography vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2782.	Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients. [electronic resource] by Kuhrová, V Francová, H Zapletalová, P Freiberger, T Fajkusová, L Hrabincová, E Slováková, R Kozák, L Producer: 20011212 In: Human mutation vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2783.	Efficient screening of the cystinuria-related C663T Slc3a1 nonsense mutation in Newfoundland dogs by denaturing high-performance liquid chromatography. [electronic resource] by Matos, Augusto José Ferreira Mascarenhas, Cláudia Magalhães, Paula Pinto, Jorge Pereira Producer: 20070430 In: Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2784.	Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. [electronic resource] by Simpson, Michael A Cross, Harold Proukakis, Christos Priestman, David A Neville, David C A Reinkensmeier, Gabriele Wang, Heng Wiznitzer, Max Gurtz, Kay Verganelaki, Argyro Pryde, Anna Patton, Michael A Dwek, Raymond A Butters, Terry D Platt, Frances M Crosby, Andrew H Producer: 20041207 In: Nature genetics vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2785.	Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers. [electronic resource] by Hirawat, Samit Welch, Ellen M Elfring, Gary L Northcutt, Valerie J Paushkin, Sergey Hwang, Seongwoo Leonard, Eileen M Almstead, Neil G Ju, William Peltz, Stuart W Miller, Langdon L Producer: 20070605 In: Journal of clinical pharmacology vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2786.	Homozygous nonsense mutation (Cys72-->stop) in the human F7 gene: a not life-threatening mutation despite the absence of circulating factor VII. [electronic resource] by Chafa, O Fischer, A-M Reghis, A Tapon-Bretaudiere, J Producer: 20050621 In: Journal of thrombosis and haemostasis : JTH vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2787.	PTC124 targets genetic disorders caused by nonsense mutations. [electronic resource] by Welch, Ellen M Barton, Elisabeth R Zhuo, Jin Tomizawa, Yuki Friesen, Westley J Trifillis, Panayiota Paushkin, Sergey Patel, Meenal Trotta, Christopher R Hwang, Seongwoo Wilde, Richard G Karp, Gary Takasugi, James Chen, Guangming Jones, Stephen Ren, Hongyu Moon, Young-Choon Corson, Donald Turpoff, Anthony A Campbell, Jeffrey A Conn, M Morgan Khan, Atiyya Almstead, Neil G Hedrick, Jean Mollin, Anna Risher, Nicole Weetall, Marla Yeh, Shirley Branstrom, Arthur A Colacino, Joseph M Babiak, John Ju, William D Hirawat, Samit Northcutt, Valerie J Miller, Langdon L Spatrick, Phyllis He, Feng Kawana, Masataka Feng, Huisheng Jacobson, Allan Peltz, Stuart W Sweeney, H Lee Producer: 20070522 In: Nature vol. 447 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2788.	A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs. [electronic resource] by Yngvadottir, Bryndis Xue, Yali Searle, Steve Hunt, Sarah Delgado, Marcos Morrison, Jonathan Whittaker, Pamela Deloukas, Panos Tyler-Smith, Chris Producer: 20090323 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)
	2789.	Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon. [electronic resource] by Musante, Luciana Kunde, Stella-Amrei Sulistio, Tina O Fischer, Ute Grimme, Astrid Frints, Suzanna G M Schwartz, Charles E Martínez, Francisco Romano, Corrado Ropers, Hans-Hilger Kalscheuer, Vera M Producer: 20100312 In: Human mutation vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2790.	Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene. [electronic resource] by Annunziata, Ida Bouchè, Valentina Lombardi, Alessia Settembre, Carmine Ballabio, Andrea Producer: 20071002 In: Human mutation vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2791.	Mutation analysis of the SDHB and SDHD genes in pheochromocytomas and paragangliomas: identification of a novel nonsense mutation (Q168X) in the SDHB gene. [electronic resource] by Oishi, Yohmi Nagai, So Yoshida, Miyuki Fujisawa, Shin-Ichi Sazawa, Ataru Shinohara, Nobuo Nonomura, Katsuya Matsuno, Kazuhiko Shimizu, Chikara Producer: 20101220 In: Endocrine journal vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2792.	Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy. [electronic resource] by Kuniyoshi, Kazuki Ikeo, Kazuho Sakuramoto, Hiroyuki Furuno, Masaaki Yoshitake, Kazutoshi Hatsukawa, Yoshikazu Nakao, Akira Tsunoda, Kazushige Kusaka, Shunji Shimomura, Yoshikazu Iwata, Takeshi Producer: 20150312 In: Documenta ophthalmologica. Advances in ophthalmology vol. 130 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2793.	Ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report. [electronic resource] by Yamada, Shuhei Okita, Yoshiko Shofuda, Tomoko Yoshioka, Ema Nonaka, Masahiro Mori, Kosuke Nakajima, Shin Kanemura, Yonehiro Producer: 20160414 In: BMC neurology vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2794.	Mechanical response of wild-type and Alport murine lens capsules during osmotic swelling. [electronic resource] by Gyoneva, Lazarina Segal, Yoav Dorfman, Kevin D Barocas, Victor H Producer: 20131107 In: Experimental eye research vol. 113 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2795.	Position of premature termination codons determines susceptibility of hERG mutations to nonsense-mediated mRNA decay in long QT syndrome. [electronic resource] by Gong, Qiuming Stump, Matthew R Zhou, Zhengfeng Producer: 20140506 In: Gene vol. 539 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2796.	Targeted next-generation sequencing identifies nine novel filaggrin gene variants in Chinese Han patients with ichthyosis vulgaris. [electronic resource] by Chen, S Kong, X Wei, X Sun, Y Yin, D Zhang, Q Du, L Man, J Mao, L Li, H Tu, Y Yang, Y Producer: 20190124 In: The British journal of dermatology vol. 177 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2797.	A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss. [electronic resource] by Niu, Zhijie Yan, Denise Bressler, Sara Mei, Lingyun Feng, Yong Liu, Xuezhong Producer: 20180309 In: International journal of pediatric otorhinolaryngology vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2798.	Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature. [electronic resource] by Lepri, Francesca Romana Cocciadiferro, Dario Augello, Bartolomeo Alfieri, Paolo Pes, Valentina Vancini, Alessandra Caciolo, Cristina Squeo, Gabriella Maria Malerba, Natascia Adipietro, Iolanda Novelli, Antonio Sotgiu, Stefano Gherardi, Renzo Digilio, Maria Cristina Dallapiccola, Bruno Merla, Giuseppe Producer: 20180724 In: International journal of molecular sciences vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2799.	Antisense suppression of the nonsense mediated decay factor Upf3b as a potential treatment for diseases caused by nonsense mutations. [electronic resource] by Huang, Lulu Low, Audrey Damle, Sagar S Keenan, Melissa M Kuntz, Steven Murray, Susan F Monia, Brett P Guo, Shuling Producer: 20180724 In: Genome biology vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2800.	CCM3/PDCD10 gene mutation in cerebral cavernous malformations associated with hyperkeratotic cutaneous capillary venous malformations. [electronic resource] by Bilo, Leonilda Antenora, Antonella Peluso, Silvio Procaccini, Enrico Maria Quarantelli, Mario Mansueto, Gelsomina Cigoli, Maria Sole Penco, Silvana De Michele, Giuseppe Producer: 20170522 In: The Journal of dermatology vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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