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	2101.	Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability. [electronic resource] by Tran Mau-Them, Frederic Willems, Marjolaine Albrecht, Beate Sanchez, Elodie Puechberty, Jacques Endele, Sabine Schneider, Anouck Ruiz Pallares, Nathalie Missirian, Chantal Rivier, Francois Girard, Manon Holder, Muriel Manouvrier, Sylvie Touitou, Isabelle Lefort, Genevieve Sarda, Pierre Moncla, Anne Drunat, Severine Wieczorek, Dagmar Genevieve, David Producer: 20150120 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)
	2102.	Expansion of the HSFY gene family in pig lineages : HSFY expansion in suids. [electronic resource] by Skinner, Benjamin M Lachani, Kim Sargent, Carole A Yang, Fengtang Ellis, Peter Hunt, Toby Fu, Beiyuan Louzada, Sandra Churcher, Carol Tyler-Smith, Chris Affara, Nabeel A Producer: 20160516 In: BMC genomics vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2103.	NEIL1 p.Gln282Stop variant is predominantly localized in the cytoplasm and exhibits reduced activity in suppressing mutations. [electronic resource] by Shinmura, Kazuya Kato, Hisami Kawanishi, Yuichi Goto, Masanori Tao, Hong Inoue, Yusuke Nakamura, Satoki Sugimura, Haruhiko Producer: 20151123 In: Gene vol. 571 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2104.	Intron retention is a widespread mechanism of tumor-suppressor inactivation. [electronic resource] by Jung, Hyunchul Lee, Donghoon Lee, Jongkeun Park, Donghyun Kim, Yeon Jeong Park, Woong-Yang Hong, Dongwan Park, Peter J Lee, Eunjung Producer: 20160307 In: Nature genetics vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2105.	Alpha-1-antitrypsin deficiency associated with the Mattawa variant. [electronic resource] by Lara, Beatriz Martínez-Delgado, Beatriz Torres, Maria Luisa Marín-Arguedas, Sandra Bustamante, Ana Miravitlles, Marc Producer: 20140826 In: Archivos de bronconeumologia vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2106.	Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I. [electronic resource] by Li, Kairong Turner, Ashley N Chen, Min Brosius, Stephanie N Schoeb, Trenton R Messiaen, Ludwine M Bedwell, David M Zinn, Kurt R Anastasaki, Corina Gutmann, David H Korf, Bruce R Kesterson, Robert A Producer: 20171204 In: Disease models & mechanisms vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2107.	Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy. [electronic resource] by Evans, Jacquelyn M Cox, Melissa L Huska, Jonathan Li, Frank Gaitero, Luis Guo, Ling T Casal, Margaret L Granzier, Henk L Shelton, G Diane Clark, Leigh Anne Producer: 20171222 In: Mammalian genome : official journal of the International Mammalian Genome Society vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2108.	Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene. [electronic resource] by Kuilenburg, André B P van Meijer, Judith Tanck, Michael W T Dobritzsch, Doreen Zoetekouw, Lida Dekkers, Lois-Lee Roelofsen, Jeroen Meinsma, Rutger Wymenga, Machteld Kulik, Wim Büchel, Barbara Hennekam, Raoul C M Largiadèr, Carlo R Producer: 20190328 In: Biochimica et biophysica acta vol. 1862 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2109.	A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita. [electronic resource] by Gerster, Karine Katschnig, Claudia Wyss, Sascha Kolly, Anne Sproll, Patrick Biason-Lauber, Anna Konrad, Daniel Producer: 20180730 In: Journal of pediatric endocrinology & metabolism : JPEM vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2110.	Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A. [electronic resource] by Enokizono, Takashi Ohto, Tatsuyuki Tanaka, Ryuta Tanaka, Mai Suzuki, Hisato Sakai, Aiko Imagawa, Kazuo Fukushima, Hiroko Iwabuti, Atsushi Fukushima, Takashi Sumazaki, Ryo Uehara, Tomoko Takenouchi, Toshiki Kosaki, Kenjiro Producer: 20180207 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)
	2111.	Controlling the Replication of a Genomically Recoded HIV-1 with a Functional Quadruplet Codon in Mammalian Cells. [electronic resource] by Chen, Yan Wan, Yanmin Wang, Nanxi Yuan, Zhe Niu, Wei Li, Qingsheng Guo, Jiantao Producer: 20190617 In: ACS synthetic biology vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2112.	Identification of candidate genes underlying genic male-sterile msc-1 locus via genome resequencing in Capsicum annuum L. [electronic resource] by Cheng, Qing Wang, Peng Liu, Jinqiu Wu, Lang Zhang, Zongpeng Li, Tiantian Gao, Wenjiao Yang, Wencai Sun, Liang Shen, Huolin Producer: 20180822 In: TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik vol. 131 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2113.	Extremely young case of small bowel intussusception due to Peutz-Jeghers syndrome with nonsense mutation of STK11. [electronic resource] by Sado, Tomomitsu Nakayama, Yoshiko Kato, Sawako Homma, Hitoshi Kusakari, Mai Hidaka, Nao Gomi, Suguru Takamizawa, Shigeru Kosho, Tomoki Saito, Shinya Sugano, Kokichi Producer: 20200224 In: Clinical journal of gastroenterology vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2114.	The rare orange-red colored Euphorbia pulcherrima cultivar 'Harvest Orange' shows a nonsense mutation in a flavonoid 3'-hydroxylase allele expressed in the bracts. [electronic resource] by Nitarska, Daria Stefanini, Carmen Haselmair-Gosch, Christian Miosic, Silvija Walliser, Benjamin Mikulic-Petkovsek, Maja Regos, Ionela Slatnar, Ana Debener, Thomas Terefe-Ayana, Diro Vilperte, Vinicius Hadersdorfer, Johannes Stich, Karl Halbwirth, Heidi Producer: 20181105 In: BMC plant biology vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2115.	Dbp5/DDX19 between Translational Readthrough and Nonsense Mediated Decay. [electronic resource] by Beißel, Christian Grosse, Sebastian Krebber, Heike Producer: 20201117 In: International journal of molecular sciences vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2116.	Genotype-Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the [electronic resource] by Monasky, Michelle M Micaglio, Emanuele Giachino, Daniela Ciconte, Giuseppe Giannelli, Luigi Locati, Emanuela T Ramondini, Elisa Cotugno, Roberta Vicedomini, Gabriele Borrelli, Valeria Ghiroldi, Andrea Anastasia, Luigi Pappone, Carlo Producer: 20200413 In: International journal of molecular sciences vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2117.	A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs. [electronic resource] by Villani, Natalie A Bullock, Garrett Michaels, Jennifer R Yamato, Osamu O'Brien, Dennis P Mhlanga-Mutangadura, Tendai Johnson, Gary S Katz, Martin L Producer: 20191115 In: Molecular genetics and metabolism vol. 127 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2118.	Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease. [electronic resource] by Altarescu, G M Goldfarb, L G Park, K Y Kaneski, C Jeffries, N Litvak, S Nagle, J W Schiffmann, R Producer: 20010927 In: Clinical genetics vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2119.	Homozygous hereditary C3 deficiency due to a premature stop codon. [electronic resource] by Da Silva Reis, Edimara Baracho, Gisele Vanessa Sousa Lima, Adriana Farah, Chuck S Isaac, Lourdes Producer: 20030508 In: Journal of clinical immunology vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2120.	Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains. [electronic resource] by Slayton, R L Deschenes, S P Willing, M C Producer: 20000502 In: Matrix biology : journal of the International Society for Matrix Biology vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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