Your search returned 5852 results.

Results
	1701.	Reading through premature stop codons with PTC1 24. Project Catalyst to find more Duchenne drugs. Interview by Guenter Scheuerbrandt. [electronic resource] by Welch, Ellen Goetz, Diane Almstead, Neil Producer: 20090507 In: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology vol. 27 Availability: No items available. Save to lists Add to cart (remove)
	1702.	Truncated beta epithelial sodium channel (ENaC) subunits responsible for multi-system pseudohypoaldosteronism support partial activity of ENaC. [electronic resource] by Edelheit, Oded Hanukoglu, Israel Shriki, Yafit Tfilin, Matanel Dascal, Nathan Gillis, David Hanukoglu, Aaron Producer: 20100326 In: The Journal of steroid biochemistry and molecular biology vol. 119 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1703.	Eleven novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria. [electronic resource] by Kawaguchi, Masakazu Hayashi, Masahiro Murata, Ichidai Hozumi, Yutaka Suzuki, Noriyuki Ishii, Yoshiyuki Wataya-Kaneda, Mari Funasaka, Yoko Kawakami, Tamihiro Fukai, Kazuyoshi Ochiai, Toyoko Nishigori, Chikako Mitsuhashi, Yoshihiko Suzuki, Tamio Producer: 20121226 In: Journal of dermatological science vol. 66 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1704.	Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors. [electronic resource] by Siu, Wai Kwan Law, Chun Yiu Lam, Ching Wan Mak, Chloe Miu Wong, Gary Wing Kin Ho, Andrew Yiu Yan Ho, Kwok Yip Loo, Ka Tai Chiu, Sin Chuen Chow, Louis Tsun Cheung Tong, Sui Fan Chan, Albert Yan Wo Producer: 20120302 In: Familial cancer vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1705.	Two novel null HLA-A alleles with identical exon 4 nonsense mutations: HLA-A24:183N and A02:356N. [electronic resource] by Shimizu, M Nakajima, F Okazaki, H Satake, M Tadokoro, K Producer: 20140127 In: Tissue antigens vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1706.	New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian families. [electronic resource] by Oladnabi, Morteza Musante, Luciana Larti, Farzaneh Hu, Hao Abedini, Seyedeh Sedigheh Wienker, Thomas Ropers, Hans Hilger Kahrizi, Kimia Najmabadi, Hossein Producer: 20151216 In: Archives of Iranian medicine vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1707.	Identification of a novel nonsense mutation in the ligand-binding domain of the vitamin d receptor gene and clinical description of two greek patients with hereditary vitamin d-resistant rickets and alopecia. [electronic resource] by Papadopoulou, Anna Bountouvi, Evangelia Gole, Evangelia Doulgeraki, Artemis Tournis, Symeon Papadimitriou, Anastasios Nicolaidou, Polyxeni Producer: 20150526 In: Hormone research in paediatrics vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1708.	Lipoxygenase pathways in Homo neanderthalensis: functional comparison with Homo sapiens isoforms. [electronic resource] by Chaitidis, Pavlos Adel, Susan Anton, Monika Heydeck, Dagmar Kuhn, Hartmut Horn, Thomas Producer: 20131104 In: Journal of lipid research vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1709.	Human nonsense-mediated mRNA decay factor UPF2 interacts directly with eRF3 and the SURF complex. [electronic resource] by López-Perrote, Andrés Castaño, Raquel Melero, Roberto Zamarro, Teresa Kurosawa, Hitomi Ohnishi, Tetsuo Uchiyama, Akiko Aoyagi, Kyoko Buchwald, Gretel Kataoka, Naoyuki Yamashita, Akio Llorca, Oscar Producer: 20160725 In: Nucleic acids research vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1710.	Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations. [electronic resource] by Xu, Xuan Gong, Ping Wen, Jie Producer: 20170317 In: Journal of assisted reproduction and genetics vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1711.	Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences. [electronic resource] by Xue, Xiaojiao Mutyam, Venkateshwar Thakerar, Amita Mobley, James Bridges, Robert J Rowe, Steven M Keeling, Kim M Bedwell, David M Producer: 20180117 In: Human molecular genetics vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1712.	[Study of in vitro expression of human platelet ITGB3 gene nonsense mutation c.1476G>A]. [electronic resource] by Liu, Ying Xu, Xianguo Chen, Shu Hong, Xiaozhen Tao, Sudan He, Ji Zhu, Faming Lyu, Hangjun Producer: 20160421 In: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1713.	Early neuroimaging markers of FOXP2 intragenic deletion. [electronic resource] by Liégeois, Frédérique J Hildebrand, Michael S Bonthrone, Alexandra Turner, Samantha J Scheffer, Ingrid E Bahlo, Melanie Connelly, Alan Morgan, Angela T Producer: 20180413 In: Scientific reports vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1714.	Familial episodic ataxia in lambs is potentially associated with a mutation in the fibroblast growth factor 14 (FGF14) gene. [electronic resource] by Dittmer, K E Jolly, R D Mayhew, I G Ridler, A L Chernyavtseva, A Garrick, D J Blair, H T Producer: 20180112 In: PloS one vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1715.	Molecular Diagnosis of Rare Autosomal Recessive Escobar Syndrome in a Consanguineous Pakistani Family. [electronic resource] by Sher, Gulab Naeem, Muhammad Producer: 20200508 In: Genetic testing and molecular biomarkers vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1716.	The characteristics and spectrum of F9 mutations in Chinese sporadic haemophilia B pedigrees. [electronic resource] by Lu, Yeling Wu, Xi Dai, Jing Ding, Qiulan Wu, Wenman Wang, Xuefeng Producer: 20190429 In: Haemophilia : the official journal of the World Federation of Hemophilia vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1717.	Wrist drop in an arcade dancing game: Unusual sudden bilateral radial palsy. [electronic resource] by Cea, Gabriel Contreras, Juan Pablo Aguilar, Shirley Vera, Julia Producer: 20200512 In: Neuromuscular disorders : NMD vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1718.	Association of the ACTN3 R577X (rs1815739) polymorphism with elite power sports: A meta-analysis. [electronic resource] by Tharabenjasin, Phuntila Pabalan, Noel Jarjanazi, Hamdi Producer: 20200203 In: PloS one vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1719.	A novel nonsense variant in PLS3 causes X-linked osteoporosis in a Chinese family. [electronic resource] by Wang, Lianqing Bian, Xinchao Cheng, Guangying Zhao, Peiqing Xiang, Xinxin Tian, Wenxiu Li, Tao Zhai, Qiaoli Producer: 20210203 In: Annals of human genetics vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1720.	Disruption of cardiac thin filament assembly arising from a mutation in [electronic resource] by Ahrens-Nicklas, Rebecca C Pappas, Christopher T Farman, Gerrie P Mayfield, Rachel M Larrinaga, Tania M Medne, Livija Ritter, Alyssa Krantz, Ian D Murali, Chaya Lin, Kimberly Y Berger, Justin H Yum, Sabrina W Carreon, Chrystalle Katte Gregorio, Carol C Producer: 20200514 In: Science advances vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

First
Previous
77
78
79
80
81
82
83
84
85
86
87
88
89
90
91
92
93
94
95
96
Next
Last

Refine your search

Availability

Authors

Topics

Languages

Your search returned 5852 results.