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	2281.	EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families. [electronic resource] by Lind, Lisbet K Stecksén-Blicks, Christina Lejon, Kristina Schmitt-Egenolf, Marcus Producer: 20061211 In: BMC medical genetics vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2282.	Listeria monocytogenes F2365 carries several authentic mutations potentially leading to truncated gene products, including inlB, and demonstrates atypical phenotypic characteristics. [electronic resource] by Nightingale, K K Milillo, S R Ivy, R A Ho, A J Oliver, H F Wiedmann, M Producer: 20070405 In: Journal of food protection vol. 70 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2283.	Identification of three novel NHS mutations in families with Nance-Horan syndrome. [electronic resource] by Huang, Kristen M Wu, Junhua Brooks, Simon P Hardcastle, Alison J Lewis, Richard Alan Stambolian, Dwight Producer: 20070425 In: Molecular vision vol. 13 Availability: No items available. Save to lists Add to cart (remove)
	2284.	mRNA quality control: an ancient machinery recognizes and degrades mRNAs with nonsense codons. [electronic resource] by Behm-Ansmant, Isabelle Kashima, Isao Rehwinkel, Jan Saulière, Jérôme Wittkopp, Nadine Izaurralde, Elisa Producer: 20070830 In: FEBS letters vol. 581 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2285.	An apparent pseudo-exon acts both as an alternative exon that leads to nonsense-mediated decay and as a zero-length exon. [electronic resource] by Grellscheid, Sushma-Nagaraja Smith, Christopher W J Producer: 20060620 In: Molecular and cellular biology vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2286.	Coagulation factor XI gene analysis in three factor XI deficient Austrian patients. [electronic resource] by Dossenbach-Glaninger, Astrid Hopmeier, Pierre Producer: 20060505 In: European journal of haematology vol. 76 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2287.	Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. [electronic resource] by Cohen, Jonathan Pertsemlidis, Alexander Kotowski, Ingrid K Graham, Randall Garcia, Christine Kim Hobbs, Helen H Producer: 20050301 In: Nature genetics vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2288.	Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy. [electronic resource] by El-Ashry, Mohamed F Abd El-Aziz, Mai M Shalaby, Osama Wilkins, Simon Poopalasundaram, Subathra Cheetham, Michael Tuft, Stephen J Hardcastle, Alison J Bhattacharya, Shomi S Ebenezer, Neil D Producer: 20050203 In: American journal of ophthalmology vol. 139 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2289.	Adding amino acids with novel reactivity to the genetic code of Saccharomyces cerevisiae. [electronic resource] by Deiters, Alexander Cropp, T Ashton Mukherji, Mridul Chin, Jason W Anderson, J Christopher Schultz, Peter G Producer: 20031117 In: Journal of the American Chemical Society vol. 125 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2290.	Insulin-like growth factors and the basis of growth. [electronic resource] by Rosenfeld, Ron G Producer: 20031211 In: The New England journal of medicine vol. 349 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2291.	Peptide backbone mutagenesis of putative gating hinges in a potassium ion channel. [electronic resource] by Nagaoka, Yasuo Shang, Lijun Banerjee, Arijit Bayley, Hagan Tucker, Stephen J Producer: 20081113 In: Chembiochem : a European journal of chemical biology vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2292.	A novel HFE mutation (c.del478) results in nonsense-mediated decay of the mutant transcript in a hemochromatosis patient. [electronic resource] by Pointon, Jennifer J Lok, Chun Yu Shearman, Jeremy D Suckling, Richard J Rochette, Jacques Merryweather-Clarke, Alison T Robson, Kathryn J H Producer: 20091021 In: Blood cells, molecules & diseases vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2293.	Reduced expression of IFIH1 is protective for type 1 diabetes. [electronic resource] by Downes, Kate Pekalski, Marcin Angus, Karen L Hardy, Matthew Nutland, Sarah Smyth, Deborah J Walker, Neil M Wallace, Chris Todd, John A Producer: 20110218 In: PloS one vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2294.	L-histidine decarboxylase and Tourette's syndrome. [electronic resource] by Ercan-Sencicek, A Gulhan Stillman, Althea A Ghosh, Ananda K Bilguvar, Kaya O'Roak, Brian J Mason, Christopher E Abbott, Thomas Gupta, Abha King, Robert A Pauls, David L Tischfield, Jay A Heiman, Gary A Singer, Harvey S Gilbert, Donald L Hoekstra, Pieter J Morgan, Thomas M Loring, Erin Yasuno, Katsuhito Fernandez, Thomas Sanders, Stephan Louvi, Angeliki Cho, Judy H Mane, Shrikant Colangelo, Christopher M Biederer, Thomas Lifton, Richard P Gunel, Murat State, Matthew W Producer: 20100527 In: The New England journal of medicine vol. 362 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2295.	Factor VIII inhibitors in patients with congenital severe haemophilia A and its relation to genotype. [electronic resource] by Pio, S F Ozelo, M C Dos Santos, A de Carvalho, B V Caram, C Zouain, D Oliveira, G C Rezende, S M Producer: 20130402 In: Haemophilia : the official journal of the World Federation of Hemophilia vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2296.	New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. [electronic resource] by Andreasen, Charlotte Nielsen, Jonas B Refsgaard, Lena Holst, Anders G Christensen, Alex H Andreasen, Laura Sajadieh, Ahmad Haunsø, Stig Svendsen, Jesper H Olesen, Morten S Producer: 20140324 In: European journal of human genetics : EJHG vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2297.	A whole-genome analysis of premature termination codons. [electronic resource] by Cirulli, Elizabeth T Heinzen, Erin L Dietrich, Fred S Shianna, Kevin V Singh, Abanish Maia, Jessica M Goedert, James J Goldstein, David B Producer: 20120216 In: Genomics vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2298.	A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndrome. [electronic resource] by da Silva, Thatiana Evilen Nishi, Mirian Yumie Costa, Elaine Maria Frade Martin, Regina Matsunaga Carvalho, Filomena Marino Mendonca, Berenice Bilharinho Domenice, Sorahia Producer: 20111222 In: Pediatric nephrology (Berlin, Germany) vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2299.	Gene symbol: TPP1. Disease: Neuronal Ceroid Lipofuscinosis, late infantile. [electronic resource] by Kohan, Romina Muller, Vivien J Fietz, Michael J Cismondi, Adriana I Oller Ramírez, Ana M Halac, Inés Noher Producer: 20101124 In: Human genetics vol. 123 Availability: No items available. Save to lists Add to cart (remove)
	2300.	Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer. [electronic resource] by Mann, Merry Lynn Ezzati, Mohammad Tarnawa, Edward D Carr, Bruce R Producer: 20151019 In: Obstetrics and gynecology vol. 126 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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