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	4181.	Osteosarcoma in a Marfan patient with a novel premature termination codon in the FBN1 gene. [electronic resource] by Roopnariane, Adriana Freed, Robert J Price, Shawn Fox, Edward J Ritty, Timothy M Producer: 20110624 In: Connective tissue research vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4182.	Genetic polymorphism of the human cytochrome CYP2A13 in a French population: implication in lung cancer susceptibility. [electronic resource] by Cauffiez, Christelle Lo-Guidice, Jean-Marc Quaranta, Sylvie Allorge, Delphine Chevalier, Dany Cenée, Sylvie Hamdan, Rima Lhermitte, Michel Lafitte, Jean-Jacques Libersa, Christian Colombel, Jean-Frédéric Stücker, Isabelle Broly, Franck Producer: 20040601 In: Biochemical and biophysical research communications vol. 317 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4183.	Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP). [electronic resource] by Thongnoppakhun, Wanna Limwongse, Chanin Vareesangthip, Kriengsak Sirinavin, Chintana Bunditworapoom, Duangkamon Rungroj, Nanyawan Yenchitsomanus, Pa-thai Producer: 20040513 In: BMC medical genetics vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4184.	A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts. [electronic resource] by Pras, Eran Raz, Judith Yahalom, Vered Frydman, Moshe Garzozi, Hanna J Pras, Elon Hejtmancik, J Fielding Producer: 20040706 In: Investigative ophthalmology & visual science vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4185.	Programmed cell death of primordial germ cells in Drosophila is regulated by p53 and the Outsiders monocarboxylate transporter. [electronic resource] by Yamada, Yukiko Davis, Keri D Coffman, Clark R Producer: 20080304 In: Development (Cambridge, England) vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4186.	Proximity of the poly(A)-binding protein to a premature termination codon inhibits mammalian nonsense-mediated mRNA decay. [electronic resource] by Silva, Ana Luísa Ribeiro, Patrícia Inácio, Angela Liebhaber, Stephen A Romão, Luísa Producer: 20080311 In: RNA (New York, N.Y.) vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4187.	A new missense mutation found in the FLNA gene in a family with bilateral periventricular nodular heterotopia (BPNH) alters the splicing process. [electronic resource] by Tsuneda, Simone S Torres, Fabio R Montenegro, Maria A Guerreiro, Marilisa M Cendes, Fernando Lopes-Cendes, Iscia Producer: 20080822 In: Journal of molecular neuroscience : MN vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4188.	Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma. [electronic resource] by Abidi, Omar Knari, Sara Sefri, Hajar Charif, Majida Senechal, Audrey Hamel, Christian Rouba, Hassan Zaghloul, Khalid El Kettani, Asmaa Lenaers, Guy Barakat, Abdelhamid Producer: 20120426 In: Molecular vision vol. 17 Availability: No items available. Save to lists Add to cart (remove)
	4189.	Spata22, a novel vertebrate-specific gene, is required for meiotic progress in mouse germ cells. [electronic resource] by La Salle, Sophie Palmer, Kristina O'Brien, Marilyn Schimenti, John C Eppig, John Handel, Mary Ann Producer: 20120709 In: Biology of reproduction vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4190.	Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleft. [electronic resource] by Low, Karen J Nwbury-Ecob, Ruth A Producer: 20120927 In: Clinical dysmorphology vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4191.	Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome. [electronic resource] by Imagawa, Eri Fattal-Valevski, Aviva Eyal, Ori Miyatake, Satoko Saada, Ann Nakashima, Mitsuko Tsurusaki, Yoshinori Saitsu, Hirotomo Miyake, Noriko Matsumoto, Naomichi Producer: 20160517 In: Journal of neurology, neurosurgery, and psychiatry vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4192.	Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. [electronic resource] by Zhang, Jie Duo, Lina Lin, Zhimiao Wang, Huijun Yin, Jinghua Cao, Xu Zhao, Jiahui Dai, Lanlan Liu, Xuanzhu Zhang, Jianguo Yang, Yong Tang, Zhanli Producer: 20150727 In: Gene vol. 566 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4193.	Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons. [electronic resource] by Kuschal, Christiane DiGiovanna, John J Khan, Sikandar G Gatti, Richard A Kraemer, Kenneth H Producer: 20140127 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)
	4194.	A splice donor site mutation in HOXD13 underlies synpolydactyly with cortical bone thinning. [electronic resource] by Shi, Xiuyan Ji, Chunyan Cao, Lihua Wu, Yuhong Shang, Yuyang Wang, Wei Luo, Yang Producer: 20131224 In: Gene vol. 532 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4195.	Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant. [electronic resource] by Yeetong, Patra Vilboux, Thierry Ciccone, Carla Boulier, Kristin Schnur, Rhonda E Gahl, William A Huizing, Marjan Laje, Gonzalo Smith, Ann C M Producer: 20171019 In: American journal of medical genetics. Part A vol. 170 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4196.	De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review. [electronic resource] by van den Akker, W M R Brummelman, I Martis, L M Timmermans, R N Pfundt, R Kleefstra, T Willemsen, M H Gerkes, E H Herkert, J C van Essen, A J Rump, P Vansenne, F Terhal, P A van Haelst, M M Cristian, I Turner, C E Cho, M T Begtrup, A Willaert, R Fassi, E van Gassen, K L I Stegmann, A P A de Vries, B B A Schuurs-Hoeijmakers, J H M Producer: 20190925 In: Clinical genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4197.	Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation. [electronic resource] by Hsu, Amy P West, Robert R Calvo, Katherine R Cuellar-Rodriguez, Jennifer Parta, Mark Kelly, Susan J Ganson, Nancy J Hershfield, Michael S Holland, Steven M Hickstein, Dennis D Producer: 20180827 In: The Journal of allergy and clinical immunology vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4198.	A Novel Nonsense Mutation of [electronic resource] by Zhang, Xia Fan, Yanjie Liu, Xiaomin Zhu, Ming-Ang Sun, Yu Yan, Hui He, Yunjuan Ye, Xiantao Gu, Xuefan Yu, Yongguo Producer: 20200414 In: Journal of clinical research in pediatric endocrinology vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4199.	Inhibition of nonsense-mediated messenger RNA decay in clinical samples facilitates detection of human MSH2 mutations with an in vivo fusion protein assay and conventional techniques. [electronic resource] by Andreutti-Zaugg, C Scott, R J Iggo, R Producer: 19970911 In: Cancer research vol. 57 Availability: No items available. Save to lists Add to cart (remove)
	4200.	Clinical phenotypes and molecular characterization of Hb H-Paksé disease. [electronic resource] by Viprakasit, Vip Tanphaichitr, Voravarn S Pung-Amritt, Parichat Petrarat, Siripan Suwantol, Lerlugsn Fisher, Chris Higgs, Douglas R Producer: 20020415 In: Haematologica vol. 87 Availability: No items available. Save to lists Add to cart (remove)

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