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	5001.	Genome-wide analysis of mRNAs regulated by the nonsense-mediated and 5' to 3' mRNA decay pathways in yeast. [electronic resource] by He, Feng Li, Xiangrui Spatrick, Phyllis Casillo, Ryan Dong, Shuyun Jacobson, Allan Producer: 20040203 In: Molecular cell vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5002.	A novel mutation of the apolipoprotein A-I gene in a family with familial combined hyperlipidemia. [electronic resource] by Pisciotta, Livia Fasano, Tommaso Calabresi, Laura Bellocchio, Antonella Fresa, Raffaele Borrini, Claudia Calandra, Sebastiano Bertolini, Stefano Producer: 20080515 In: Atherosclerosis vol. 198 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5003.	A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes. [electronic resource] by Rinne, Tuula Clements, Suzanne E Lamme, Evert Duijf, Pascal H G Bolat, Emine Meijer, Rowdy Scheffer, Hans Rosser, Elisabeth Tan, Tiong Yang McGrath, John A Schalkwijk, Joost Brunner, Han G Zhou, Huiqing van Bokhoven, Hans Producer: 20080723 In: Human molecular genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5004.	Distinct mutant hepatitis B virus genomes, with alterations in all four open reading frames, in a single South African hepatocellular carcinoma patient. [electronic resource] by Skelton, Michelle Kew, Michael C Kramvis, Anna Producer: 20120504 In: Virus research vol. 163 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5005.	A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL. [electronic resource] by Pasternack, S M Böckenhauer, D Refke, M Tasic, V Draaken, M Conrad, C Born, M Betz, R C Reutter, H Ludwig, M Producer: 20130805 In: Klinische Padiatrie vol. 225 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5006.	Recurrent EIARF and PRES with severe renal hypouricemia by compound heterozygous SLC2A9 mutation. [electronic resource] by Shima, Yuko Nozu, Kandai Nozu, Yoshimi Togawa, Hiroko Kaito, Hiroshi Matsuo, Masafumi Iijima, Kazumoto Nakanishi, Koichi Yoshikawa, Norishige Producer: 20110809 In: Pediatrics vol. 127 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5007.	Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model. [electronic resource] by Brendel, Cornelia Belakhov, Valery Werner, Hauke Wegener, Eike Gärtner, Jutta Nudelman, Igor Baasov, Timor Huppke, Peter Producer: 20110627 In: Journal of molecular medicine (Berlin, Germany) vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5008.	Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia. [electronic resource] by Setoodeh, Aria Haghighi, Amirreza Saleh-Gohari, Nasrollah Ellard, Sian Haghighi, Alireza Producer: 20130520 In: Gene vol. 519 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5009.	Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer. [electronic resource] by Grant, Robert C Al-Sukhni, Wigdan Borgida, Ayelet E Holter, Spring Kanji, Zaheer S McPherson, Treasa Whelan, Emily Serra, Stefano Trinh, Quang M Peltekova, Vanya Stein, Lincoln D McPherson, John D Gallinger, Steven Producer: 20131126 In: Human genomics vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5010.	Truncating mutations of PPM1D are found in blood DNA samples of lung cancer patients. [electronic resource] by Zajkowicz, A Butkiewicz, D Drosik, A Giglok, M Suwiński, R Rusin, M Producer: 20150513 In: British journal of cancer vol. 112 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5011.	Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations. [electronic resource] by Tajsharghi, Homa Hammans, Simon Lindberg, Christopher Lossos, Alexander Clarke, Nigel F Mazanti, Ingrid Waddell, Leigh B Fellig, Yakov Foulds, Nicola Katifi, Haider Webster, Richard Raheem, Olayinka Udd, Bjarne Argov, Zohar Oldfors, Anders Producer: 20150206 In: European journal of human genetics : EJHG vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5012.	The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18. [electronic resource] by Aldahmesh, Mohammed A Alshammari, Muneera J Khan, Arif O Mohamed, Jawahir Y Alhabib, Fatimah A Alkuraya, Fowzan S Producer: 20140228 In: Human mutation vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5013.	Identification of a PTC-containing DlRan transcript and its differential expression during somatic embryogenesis in Dimocarpus longan. [electronic resource] by Fang, Zhi-Zhen Lai, Cheng-Chun Zhang, Ya-Ling Lin, Yu-Ling Lai, Zhong-Xiong Producer: 20131029 In: Gene vol. 529 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5014.	Possible new therapeutic strategy to regulate atopic dermatitis through upregulating filaggrin expression. [electronic resource] by Otsuka, Atsushi Doi, Hiromi Egawa, Gyohei Maekawa, Akiko Fujita, Tomoko Nakamizo, Satoshi Nakashima, Chisa Nakajima, Saeko Watanabe, Takeshi Miyachi, Yoshiki Narumiya, Shuh Kabashima, Kenji Producer: 20140313 In: The Journal of allergy and clinical immunology vol. 133 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5015.	A Population Genomics Approach to Assessing the Genetic Basis of Within-Host Microevolution Underlying Recurrent Cryptococcal Meningitis Infection. [electronic resource] by Rhodes, Johanna Beale, Mathew A Vanhove, Mathieu Jarvis, Joseph N Kannambath, Shichina Simpson, John A Ryan, Anthea Meintjes, Graeme Harrison, Thomas S Fisher, Matthew C Bicanic, Tihana Producer: 20180710 In: G3 (Bethesda, Md.) vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5016.	Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity. [electronic resource] by Parente, Daniel J Garriga, Caryn Baskin, Berivan Douglas, Ganka Cho, Megan T Araujo, Gabriel C Shinawi, Marwan Producer: 20171019 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5017.	Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest. [electronic resource] by Xu, Yao Shi, Yingli Fu, Jing Yu, Min Feng, Ruizhi Sang, Qing Liang, Bo Chen, Biaobang Qu, Ronggui Li, Bin Yan, Zheng Mao, Xiaoyan Kuang, Yanping Jin, Li He, Lin Sun, Xiaoxi Wang, Lei Producer: 20170502 In: American journal of human genetics vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5018.	Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia. [electronic resource] by Rimbert, Antoine Pichelin, Matthieu Lecointe, Simon Marrec, Marie Le Scouarnec, Solena Barrak, Elias Croyal, Mikael Krempf, Michel Le Marec, Hervé Redon, Richard Schott, Jean-Jacques Magré, Jocelyne Cariou, Bertrand Producer: 20171220 In: Atherosclerosis vol. 250 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5019.	Transcriptional mutagenesis mediated by 8-oxoG induces translational errors in mammalian cells. [electronic resource] by Dai, Da-Peng Gan, Wei Hayakawa, Hiroshi Zhu, Jia-Lou Zhang, Xiu-Qing Hu, Guo-Xin Xu, Tao Jiang, Zhe-Li Zhang, Li-Qun Hu, Xue-Da Nie, Ben Zhou, Yue Li, Jin Zhou, Xiao-Yang Li, Jian Zhang, Tie-Mei He, Qing Liu, Dong-Ge Chen, Hai-Bo Yang, Nan Zuo, Ping-Ping Zhang, Zhi-Xin Yang, Huan-Ming Wang, Yao Wilson, Samuel H Zeng, Yi-Xin Wang, Jian-Ye Sekiguchi, Mutsuo Cai, Jian-Ping Producer: 20180829 In: Proceedings of the National Academy of Sciences of the United States of America vol. 115 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5020.	The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function. [electronic resource] by Parvin, Shaho Rezazadeh, Maryam Hosseinzadeh, Hassan Moradi, Mohsen Shiva, Shadi Gharesouran, Jalal Producer: 20210201 In: Neuromolecular medicine vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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