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	5501.	Metabolic characterization of a mouse deficient in all known leptin receptor isoforms. [electronic resource] by Osborn, Olivia Sanchez-Alavez, Manuel Brownell, Sara E Ross, Brendon Klaus, Joe Dubins, Jeffrey Beutler, Bruce Conti, Bruno Bartfai, Tamas Producer: 20100413 In: Cellular and molecular neurobiology vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5502.	A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. [electronic resource] by Arnoldi, Alessia Tonelli, Alessandra Crippa, Francesca Villani, Gaetano Pacelli, Consiglia Sironi, Manuela Pozzoli, Uberto D'Angelo, Maria Grazia Meola, Giovanni Martinuzzi, Andrea Crimella, Claudia Redaelli, Francesca Panzeri, Chris Renieri, Alessandra Comi, Giacomo Pietro Turconi, Anna Carla Bresolin, Nereo Bassi, Maria Teresa Producer: 20080416 In: Human mutation vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5503.	RNA surveillance is required for endoplasmic reticulum homeostasis. [electronic resource] by Sakaki, Kenjiro Yoshina, Sawako Shen, Xiaohua Han, Jaeseok DeSantis, Melinda R Xiong, Mon Mitani, Shohei Kaufman, Randal J Producer: 20120802 In: Proceedings of the National Academy of Sciences of the United States of America vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5504.	The cancer-testis antigen BORIS phenocopies the tumor suppressor CTCF in normal and neoplastic cells. [electronic resource] by Tiffen, Jessamy C Bailey, Charles G Marshall, Amy D Metierre, Cynthia Feng, Yue Wang, Qian Watson, Sarah L Holst, Jeff Rasko, John E J Producer: 20130923 In: International journal of cancer vol. 133 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5505.	Cereblon is recruited to aggresome and shows cytoprotective effect against ubiquitin-proteasome system dysfunction. [electronic resource] by Sawamura, Naoya Wakabayashi, Satoru Matsumoto, Kodai Yamada, Haruka Asahi, Toru Producer: 20151208 In: Biochemical and biophysical research communications vol. 464 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5506.	Cloning and characterization of HUPF1, a human homolog of the Saccharomyces cerevisiae nonsense mRNA-reducing UPF1 protein. [electronic resource] by Applequist, S E Selg, M Raman, C Jäck, H M Producer: 19970317 In: Nucleic acids research vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5507.	De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. [electronic resource] by Claes, L Del-Favero, J Ceulemans, B Lagae, L Van Broeckhoven, C De Jonghe, P Producer: 20010705 In: American journal of human genetics vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5508.	Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in advanced gastric carcinomas. [electronic resource] by Wang, Jaw-Yuan Huang, Tsung-Jen Chen, Fang-Ming Hsieh, Ming-Chia Lin, Shiu-Ru Hou, Ming-Feng Hsieh, Jan-Sing Producer: 20030717 In: Virchows Archiv : an international journal of pathology vol. 442 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5509.	Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier. [electronic resource] by Craig, J E Baird, P N Healey, D L McNaught, A I McCartney, P J Rait, J L Dickinson, J L Roe, L Fingert, J H Stone, E M Mackey, D A Producer: 20010920 In: Ophthalmology vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5510.	Identification and characterization of polymorphic variations of the ataxia telangiectasia mutated (ATM) gene in childhood Hodgkin disease. [electronic resource] by Takagi, Masatoshi Tsuchida, Rika Oguchi, Kaoru Shigeta, Teruko Nakada, Shinichiro Shimizu, Kimiko Ohki, Misao Delia, Domenico Chessa, Luciana Taya, Yoichi Nakanishi, Makoto Tsunematsu, Yukiko Bessho, Fumio Isoyama, Keiichi Hayashi, Yoshiki Kudo, Kazuko Okamura, Jun Mizutani, Shuki Producer: 20040217 In: Blood vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5511.	Autosomal recessive von Willebrand disease type 1 or 2 due to homozygous or compound heterozygous mutations in the von Willebrand factor gene. A single center experience on molecular heterogeneity and laboratory features in 12 families. [electronic resource] by Castaman, G Giacomelli, S Rodeghiero, F Producer: 20090706 In: Acta haematologica vol. 121 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5512.	The functional effect of pathogenic mutations in Rab escort protein 1. [electronic resource] by Sergeev, Y V Smaoui, N Sui, R Stiles, D Gordiyenko, N Strunnikova, N Macdonald, I M Producer: 20090724 In: Mutation research vol. 665 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5513.	Nonsense-mediated translational repression involves exon junction complex downstream of premature translation termination codon. [electronic resource] by Lee, Hyung Chul Oh, Nara Cho, Hana Choe, Junho Kim, Yoon Ki Producer: 20100504 In: FEBS letters vol. 584 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5514.	Presence of a deletion mutation (c.716delA) in the ligand binding domain of the vitamin D receptor in an Indian patient with vitamin D-dependent rickets type II. [electronic resource] by Kanakamani, Jeyaraman Tomar, Neeraj Kaushal, Esha Tandon, Nikhil Goswami, Ravinder Producer: 20100420 In: Calcified tissue international vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5515.	Cloning, sequence analysis and identification of a nonsense mutation-mediated mRNA decay of porcine GSTM2 gene. [electronic resource] by Huang, Jingshu Xiong, Yuanzhu Deng, Changyan Zuo, Bo Xu, Dequan Lei, Minggang Jiang, Siwen Producer: 20071024 In: Acta biochimica et biophysica Sinica vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5516.	Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. [electronic resource] by Saitsu, Hirotomo Osaka, Hitoshi Sasaki, Masayuki Takanashi, Jun-Ichi Hamada, Keisuke Yamashita, Akio Shibayama, Hidehiro Shiina, Masaaki Kondo, Yukiko Nishiyama, Kiyomi Tsurusaki, Yoshinori Miyake, Noriko Doi, Hiroshi Ogata, Kazuhiro Inoue, Ken Matsumoto, Naomichi Producer: 20120221 In: American journal of human genetics vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5517.	Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort. [electronic resource] by Hampshire, Daniel J Abuzenadah, Adel M Cartwright, Ashley Al-Shammari, Nawal S Coyle, Rachael E Eckert, Michaela Al-Buhairan, Ahlam M Messenger, Sarah L Budde, Ulrich Gürsel, Türkiz Ingerslev, Jørgen Peake, Ian R Goodeve, Anne C Producer: 20140403 In: Thrombosis and haemostasis vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5518.	Risk factors associated with inhibitor development in Chinese patients with haemophilia B. [electronic resource] by Zhou, J Ding, Q Chen, Z Yang, H Lin, L Wang, H Wang, X Wu, R Producer: 20160328 In: Haemophilia : the official journal of the World Federation of Hemophilia vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5519.	Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype. [electronic resource] by Shibbani, K Fahed, A C Al-Shaar, L Arabi, M Nemer, G Bitar, F Majdalani, M Producer: 20150330 In: Clinical genetics vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5520.	CK2-mediated TEL2 phosphorylation augments nonsense-mediated mRNA decay (NMD) by increase of SMG1 stability. [electronic resource] by Ahn, Seyoung Kim, Jinyoung Hwang, Jungwook Producer: 20131203 In: Biochimica et biophysica acta vol. 1829 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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