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	4481.	Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth. [electronic resource] by Nieminen, Pekka Morgan, Neil V Fenwick, Aimée L Parmanen, Satu Veistinen, Lotta Mikkola, Marja L van der Spek, Peter J Giraud, Andrew Judd, Louise Arte, Sirpa Brueton, Louise A Wall, Steven A Mathijssen, Irene M J Maher, Eamonn R Wilkie, Andrew O M Kreiborg, Sven Thesleff, Irma Producer: 20110919 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)
	4482.	Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. [electronic resource] by Schraders, Margit Haas, Stefan A Weegerink, Nicole J D Oostrik, Jaap Hu, Hao Hoefsloot, Lies H Kannan, Sriram Huygen, Patrick L M Pennings, Ronald J E Admiraal, Ronald J C Kalscheuer, Vera M Kunst, Henricus P M Kremer, Hannie Producer: 20110815 In: American journal of human genetics vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4483.	Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene. [electronic resource] by Xu, Fei Xiang, Hang Jiang, Ruxin Dong, Fangtian Sui, Ruifang Producer: 20111021 In: Documenta ophthalmologica. Advances in ophthalmology vol. 123 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4484.	Converting nonsense codons into sense codons by targeted pseudouridylation. [electronic resource] by Karijolich, John Yu, Yi-Tao Producer: 20110726 In: Nature vol. 474 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4485.	A bacterial symbiont is converted from an inedible producer of beneficial molecules into food by a single mutation in the gacA gene. [electronic resource] by Stallforth, Pierre Brock, Debra A Cantley, Alexandra M Tian, Xiangjun Queller, David C Strassmann, Joan E Clardy, Jon Producer: 20131216 In: Proceedings of the National Academy of Sciences of the United States of America vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4486.	Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review. [electronic resource] by Mordaunt, Dylan A Jolley, Alexandra Balasubramaniam, Shanti Thorburn, David R Mountford, Hayley S Compton, Alison G Nicholl, Jillian Manton, Nicholas Clark, Damian Bratkovic, Drago Friend, Kathryn Yu, Sui Producer: 20160217 In: American journal of medical genetics. Part A vol. 167 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4487.	Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome. [electronic resource] by Monies, Dorota M Rahbeeni, Zuhair Abouelhoda, Mohamed Naim, Ewa A Al-Younes, Banan Meyer, Brian F Al-Mehaidib, Ali Producer: 20160515 In: Journal of pediatric gastroenterology and nutrition vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4488.	The ACTN3 R577X genotype is associated with muscle function in a Japanese population. [electronic resource] by Kikuchi, Naoki Yoshida, Shou Min, Seok-ki Lee, Kihyuk Sakamaki-Sunaga, Mikako Okamoto, Takanobu Nakazato, Koichi Producer: 20160720 In: Applied physiology, nutrition, and metabolism = Physiologie appliquee, nutrition et metabolisme vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4489.	Xenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patients. [electronic resource] by Nakayama, Takuya Fisher, Marilyn Nakajima, Keisuke Odeleye, Akinleye O Zimmerman, Keith B Fish, Margaret B Yaoita, Yoshio Chojnowski, Jena L Lauderdale, James D Netland, Peter A Grainger, Robert M Producer: 20160610 In: Developmental biology vol. 408 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4490.	Physiological basis of copper tolerance of Saccharomyces cerevisiae nonsense-mediated mRNA decay mutants. [electronic resource] by Wang, Xuya Okonkwo, Obi Kebaara, Bessie W Producer: 20131101 In: Yeast (Chichester, England) vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4491.	Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype. [electronic resource] by Kang, Jing-Qiong Shen, Wangzhen Macdonald, Robert L Producer: 20140121 In: Annals of neurology vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4492.	Genetic and functional analyses of ZIC3 variants in congenital heart disease. [electronic resource] by Cowan, Jason Tariq, Muhammad Ware, Stephanie M Producer: 20140730 In: Human mutation vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4493.	Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits. [electronic resource] by Styrkarsdottir, Unnur Thorleifsson, Gudmar Sulem, Patrick Gudbjartsson, Daniel F Sigurdsson, Asgeir Jonasdottir, Aslaug Jonasdottir, Adalbjorg Oddsson, Asmundur Helgason, Agnar Magnusson, Olafur T Walters, G Bragi Frigge, Michael L Helgadottir, Hafdis T Johannsdottir, Hrefna Bergsteinsdottir, Kristin Ogmundsdottir, Margret H Center, Jacqueline R Nguyen, Tuan V Eisman, John A Christiansen, Claus Steingrimsson, Erikur Jonasson, Jon G Tryggvadottir, Laufey Eyjolfsson, Gudmundur I Theodors, Asgeir Jonsson, Thorvaldur Ingvarsson, Thorvaldur Olafsson, Isleifur Rafnar, Thorunn Kong, Augustine Sigurdsson, Gunnar Masson, Gisli Thorsteinsdottir, Unnur Stefansson, Kari Producer: 20130812 In: Nature vol. 497 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4494.	A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs. [electronic resource] by Goldstein, Orly Jordan, Julie Ann Aguirre, Gustavo D Acland, Gregory M Producer: 20140325 In: Molecular vision vol. 19 Availability: No items available. Save to lists Add to cart (remove)
	4495.	New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. [electronic resource] by Jabbari, Javad Jabbari, Reza Nielsen, Morten W Holst, Anders G Nielsen, Jonas B Haunsø, Stig Tfelt-Hansen, Jacob Svendsen, Jesper H Olesen, Morten S Producer: 20140514 In: Circulation. Cardiovascular genetics vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4496.	A nonsense mutation in Ccdc62 gene is responsible for spermiogenesis defects and male infertility in repro29/repro29 mice. [electronic resource] by Li, Yuchi Li, Cailing Lin, Shouren Yang, Bo Huang, Weiren Wu, Hanwei Chen, Yuanbin Yang, Lihua Luo, Manling Guo, Huan Chen, Jianbo Wang, Tiantian Ma, Qian Gu, Yanli Mou, Lisha Jiang, Zhimao Xia, Jun Gui, Yaoting Producer: 20171121 In: Biology of reproduction vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4497.	Mutations in fetal genes involved in innate immunity and host defense against microbes increase risk of preterm premature rupture of membranes (PPROM). [electronic resource] by Modi, Bhavi P Teves, Maria E Pearson, Laurel N Parikh, Hardik I Haymond-Thornburg, Hannah Tucker, John L Chaemsaithong, Piya Gomez-Lopez, Nardhy York, Timothy P Romero, Roberto Strauss, Jerome F Producer: 20180119 In: Molecular genetics & genomic medicine vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4498.	A novel truncation mutation in [electronic resource] by Rao, Yan Dong, Sufang Li, Zuhua Yang, Guohua Peng, Chunyan Yan, Ming Zheng, Fang Producer: 20180413 In: Molecular vision vol. 23 Availability: No items available. Save to lists Add to cart (remove)
	4499.	Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease. [electronic resource] by Barny, Iris Perrault, Isabelle Michel, Christel Soussan, Mickael Goudin, Nicolas Rio, Marlène Thomas, Sophie Attié-Bitach, Tania Hamel, Christian Dollfus, Hélène Kaplan, Josseline Rozet, Jean-Michel Gerard, Xavier Producer: 20191203 In: Human molecular genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4500.	None [electronic resource] by Kim, Do Hoon Cho, Chi Heum Kwon, Sun Young Ryoo, Nam Hee Jeon, Dong Seok Lee, Wonmok Ha, Jung Sook Producer: 20190620 In: Journal of gynecologic oncology vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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