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	4701.	I260Q DNA polymerase β highlights precatalytic conformational rearrangements critical for fidelity. [electronic resource] by Liptak, Cary Mahmoud, Mariam M Eckenroth, Brian E Moreno, Marcus V East, Kyle Alnajjar, Khadijeh S Huang, Ji Towle-Weicksel, Jamie B Doublié, Sylvie Loria, J Patrick Sweasy, Joann B Producer: 20190730 In: Nucleic acids research vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4702.	Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome. [electronic resource] by Melo Gomes, Sonia Dias, Cristina Omoyinmi, Ebun Compeyrot-Lacassagne, Sandrine Klein, Nigel Sebire, Neil J Brogan, Paul Producer: 20191217 In: Pediatrics vol. 144 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4703.	Metabolism and Disposition of Ataluren after Oral Administration to Mice, Rats, Dogs, and Humans. [electronic resource] by Kong, Ronald Ma, Jiyuan Hwang, Seongwoo Goodwin, Elizabeth Northcutt, Valerie Babiak, John Almstead, Neil McIntosh, Joseph Producer: 20210719 In: Drug metabolism and disposition: the biological fate of chemicals vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4704.	Case report: a 58 -year -old man with small kidneys and elevated liver enzymes. [electronic resource] by Dash, Jonathan Saudan, Patrick Paoloni-Giacobino, Ariane Moll, Solange de Seigneux, Sophie Producer: 20210907 In: BMC nephrology vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4705.	Genetic analysis of patients with leukocyte adhesion deficiency: genomic sequencing reveals otherwise undetectable mutations. [electronic resource] by Roos, Dirk Meischl, Christof de Boer, Martin Simsek, Suat Weening, Ron S Sanal, Ozden Tezcan, Ilhan Güngör, Tayfun Law, S K Alex Producer: 20020503 In: Experimental hematology vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4706.	Mutations in SOX2 cause anophthalmia. [electronic resource] by Fantes, Judy Ragge, Nicola K Lynch, Sally-Ann McGill, Niolette I Collin, J Richard O Howard-Peebles, Patricia N Hayward, Caroline Vivian, Anthony J Williamson, Kathy van Heyningen, Veronica FitzPatrick, David R Producer: 20030516 In: Nature genetics vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4707.	Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome. [electronic resource] by Lam, C W Yeung, W L Ko, C H Poon, P M Tong, S F Chan, K Y Lo, I F Chan, L Y Hui, J Wong, V Pang, C P Lo, Y M Fok, T F Producer: 20010125 In: Journal of medical genetics vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4708.	Gene set coregulated by the Saccharomyces cerevisiae nonsense-mediated mRNA decay pathway. [electronic resource] by Taylor, Rachel Kebaara, Bessie Wanja Nazarenus, Tara Jones, Ashley Yamanaka, Rena Uhrenholdt, Rachel Wendler, Jason P Atkin, Audrey L Producer: 20060221 In: Eukaryotic cell vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4709.	A false note of DNA polymerase iota in the choir of genome caretakers in mammals. [electronic resource] by Gening, L V Makarova, A V Malashenko, A M Tarantul, V Z Producer: 20060516 In: Biochemistry. Biokhimiia vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4710.	High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene. [electronic resource] by Sakata, Kenji Shimizu, Masami Ino, Hidekazu Yamaguchi, Masato Terai, Hidenobu Fujino, Noboru Hayashi, Kenshi Kaneda, Tomoya Inoue, Masaru Oda, Yoshio Fujita, Takashi Kaku, Bunji Kanaya, Hounin Mabuchi, Hiroshi Producer: 20060203 In: Circulation vol. 111 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4711.	Photoreceptor degeneration, azoospermia, leukoencephalopathy, and abnormal RPE cell function in mice expressing an early stop mutation in CLCN2. [electronic resource] by Edwards, Malia M Marín de Evsikova, Caralina Collin, Gayle B Gifford, Elaine Wu, Jiang Hicks, Wanda L Whiting, Carrie Varvel, Nicholas H Maphis, Nicole Lamb, Bruce T Naggert, Jürgen K Nishina, Patsy M Peachey, Neal S Producer: 20100611 In: Investigative ophthalmology & visual science vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4712.	Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example. [electronic resource] by Aldahmesh, Mohamed A Abu-Safieh, Leen Khan, Arif O Al-Hassnan, Zuhair N Shaheen, Ranad Rajab, Mohammed Monies, Dorota Meyer, Brian F Alkuraya, Fowzan S Producer: 20090617 In: American journal of medical genetics. Part A vol. 149A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4713.	A nonsense mutation in cGMP-dependent type II protein kinase (PRKG2) causes dwarfism in American Angus cattle. [electronic resource] by Koltes, James E Mishra, Bishnu P Kumar, Dinesh Kataria, Ranjit S Totir, Liviu R Fernando, Rohan L Cobbold, Rowland Steffen, David Coppieters, Wouter Georges, Michel Reecy, James M Producer: 20091215 In: Proceedings of the National Academy of Sciences of the United States of America vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4714.	Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene. [electronic resource] by Slade, I Stephens, P Douglas, J Barker, K Stebbings, L Abbaszadeh, F Pritchard-Jones, K Cole, R Pizer, B Stiller, C Vujanic, G Scott, R H Stratton, M R Rahman, N Producer: 20100728 In: Journal of medical genetics vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4715.	Tnni3k modifies disease progression in murine models of cardiomyopathy. [electronic resource] by Wheeler, Ferrin C Tang, Hao Marks, Odessa A Hadnott, Tracy N Chu, Pei-Lun Mao, Lan Rockman, Howard A Marchuk, Douglas A Producer: 20100106 In: PLoS genetics vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4716.	Danon disease: case report and detection of new mutation. [electronic resource] by Regelsberger, G Höftberger, R Pickl, W F Zlabinger, G J Körmöczi, U Salzer-Muhar, U Luckner, D Bodamer, O A Mayr, J A Muss, W H Budka, H Bernheimer, H Producer: 20130805 In: Journal of inherited metabolic disease vol. 32 Suppl 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4717.	A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency. [electronic resource] by Resta, Nicoletta Susca, Francesco Claudio Di Giacomo, Marilena C Stella, Alessandro Bukvic, Nenad Bagnulo, Rosanna Simone, Cristiano Guanti, Ginevra Producer: 20061020 In: Journal of cellular physiology vol. 209 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4718.	A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol. [electronic resource] by Fasano, Tommaso Cefalù, Angelo B Di Leo, Enza Noto, Davide Pollaccia, Daniela Bocchi, Letizia Valenti, Vincenza Bonardi, Renato Guardamagna, Ornella Averna, Maurizio Tarugi, Patrizia Producer: 20070307 In: Arteriosclerosis, thrombosis, and vascular biology vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4719.	Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population. [electronic resource] by Horvath, Anelia Giatzakis, Christoforos Robinson-White, Audrey Boikos, Sosipatros Levine, Elizabeth Griffin, Kurt Stein, Erica Kamvissi, Virginia Soni, Payal Bossis, Ioannis de Herder, Wouter Carney, J Aidan Bertherat, Jérôme Gregersen, Peter K Remmers, Elaine F Stratakis, Constantine A Producer: 20070125 In: Cancer research vol. 66 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4720.	Exclusive cardiac dysfunction in familial primary carnitine deficiency cases: a genotype-phenotype correlation. [electronic resource] by Yamak, A A Bitar, F Karam, P Nemer, G Producer: 20070830 In: Clinical genetics vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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