Your search returned 5852 results.

Results
	1601.	CRISPR-Pass: Gene Rescue of Nonsense Mutations Using Adenine Base Editors. [electronic resource] by Lee, Choongil Hyun Jo, Dong Hwang, Gue-Ho Yu, Jihyeon Kim, Jin Hyoung Park, Se-Eun Kim, Jin-Soo Kim, Jeong Hun Bae, Sangsu Producer: 20200529 In: Molecular therapy : the journal of the American Society of Gene Therapy vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1602.	Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype. [electronic resource] by Frykholm, Carina Klar, Joakim Tomanovic, Tatjana Ameur, Adam Dahl, Niklas Producer: 20190328 In: European journal of human genetics : EJHG vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1603.	KCNC1-related disorders: new de novo variants expand the phenotypic spectrum. [electronic resource] by Park, Joohyun Koko, Mahmoud Hedrich, Ulrike B S Hermann, Andreas Cremer, Kirsten Haberlandt, Edda Grimmel, Mona Alhaddad, Bader Beck-Woedl, Stefanie Harrer, Merle Karall, Daniela Kingelhoefer, Lisa Tzschach, Andreas Matthies, Lars C Strom, Tim M Ringelstein, Erich Bernd Sturm, Marc Engels, Hartmut Wolff, Markus Lerche, Holger Haack, Tobias B Producer: 20200513 In: Annals of clinical and translational neurology vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1604.	Ataluren/ivacaftor combination therapy: Two N-of-1 trials in cystic fibrosis patients with nonsense mutations. [electronic resource] by Peabody Lever, Jacelyn E Mutyam, Venkateshwar Hathorne, Heather Y Peng, Ning Sharma, Jyoti Edwards, Lloyd J Rowe, Steven M Producer: 20201208 In: Pediatric pulmonology vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1605.	Complete sequence of the mitochondrial genome of the tapeworm Hymenolepis diminuta: gene arrangements indicate that Platyhelminths are Eutrochozoans. [electronic resource] by von Nickisch-Rosenegk, M Brown, W M Boore, J L Producer: 20010712 In: Molecular biology and evolution vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1606.	A quorum sensing-associated virulence gene of Pseudomonas aeruginosa encodes a LysR-like transcription regulator with a unique self-regulatory mechanism. [electronic resource] by Cao, H Krishnan, G Goumnerov, B Tsongalis, J Tompkins, R Rahme, L G Producer: 20020110 In: Proceedings of the National Academy of Sciences of the United States of America vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1607.	A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs. [electronic resource] by Melville, Scott A Wilson, Carmen L Chiang, Chiu S Studdert, Virginia P Lingaas, Frode Wilton, Alan N Producer: 20051018 In: Genomics vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1608.	Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges. [electronic resource] by Kuzmiak, Holly A Maquat, Lynne E Producer: 20060911 In: Trends in molecular medicine vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1609.	New compound heterozygous mutations in a Chinese family with lipoid proteinosis. [electronic resource] by Wang, C Y Zhang, P Z Zhang, F R Liu, J Tian, H Q Yu, L Producer: 20061130 In: The British journal of dermatology vol. 155 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1610.	Sacral dimple as a skin manifestation of the Smith-Lemli-Opitz syndrome. [electronic resource] by Bzduch, V Behulova, D Kozak, L Producer: 20070426 In: Journal of inherited metabolic disease vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1611.	Missense and nonsense mutations of the flavin-containing monooxygenase 3 gene in a Japanese cohort. [electronic resource] by Shimizu, Makiko Tomioka, Sachiko Murayama, Norie Yamazaki, Hiroshi Producer: 20070409 In: Drug metabolism and pharmacokinetics vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1612.	[Gene mapping and mutation detection in a family with congenital nuclear cataract]. [electronic resource] by Liu, Ping Zhang, Lu Ouyang, Shan Gao, Ling-han He, Lin Fu, Song-bin Producer: 20101216 In: [Zhonghua yan ke za zhi] Chinese journal of ophthalmology vol. 45 Availability: No items available. Save to lists Add to cart (remove)
	1613.	Cys-881 is essential for the trafficking and secretion of truncated mutant ceruloplasmin in aceruloplasminemia. [electronic resource] by Kono, Satoshi Suzuki, Hitoshi Oda, Toshiaki Shirakawa, Kentaro Takahashi, Yoshitomo Kitagawa, Masatoshi Miyajima, Hiroaki Producer: 20080226 In: Journal of hepatology vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1614.	Molecular basis for hair loss in mice carrying a novel nonsense mutation (Hrrh-R ) in the hairless gene (Hr). [electronic resource] by Liu, Y Sundberg, J P Das, S Carpenter, D Cain, K T Michaud, E J Voy, B H Producer: 20100322 In: Veterinary pathology vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1615.	[Properdin mutations a risk factor for meningitis]. [electronic resource] by Seitsonen, Sanna Helminen, Merja Jarva, Hanna Meri, Seppo Järvelä, Irma Producer: 20100813 In: Duodecim; laaketieteellinen aikakauskirja vol. 126 Availability: No items available. Save to lists Add to cart (remove)
	1616.	Does RecA have a role in Borrelia recurrentis? [electronic resource] by Cutler, S J Rinky, I J Bonilla, E M Producer: 20110426 In: Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1617.	Linkage analysis and a novel COL4A5 mutation in a large Turkish family with Alport syndrome. [electronic resource] by Tug, E Percin, F E Pala, E Baysoy, G Producer: 20111013 In: Genetic counseling (Geneva, Switzerland) vol. 22 Availability: No items available. Save to lists Add to cart (remove)
	1618.	Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2. [electronic resource] by Hu, Yafang Jiang, Haishan Wang, Qun Xie, Zuoshan Pan, Suyue Producer: 20130813 In: PloS one vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1619.	Identification of a nonsense mutation in CWC15 associated with decreased reproductive efficiency in Jersey cattle. [electronic resource] by Sonstegard, Tad S Cole, John B VanRaden, Paul M Van Tassell, Curtis P Null, Daniel J Schroeder, Steven G Bickhart, Derek McClure, Matthew C 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)
	1620.	Increased selectivity toward cytoplasmic versus mitochondrial ribosome confers improved efficiency of synthetic aminoglycosides in fixing damaged genes: a strategy for treatment of genetic diseases caused by nonsense mutations. [electronic resource] by Kandasamy, Jeyakumar Atia-Glikin, Dana Shulman, Eli Shapira, Katya Shavit, Michal Belakhov, Valery Baasov, Timor Producer: 20130226 In: Journal of medicinal chemistry vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

First
Previous
72
73
74
75
76
77
78
79
80
81
82
83
84
85
86
87
88
89
90
91
Next
Last

Refine your search

Availability

Authors

Topics

Languages

Your search returned 5852 results.