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	2081.	Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. [electronic resource] by Wagner, K R Hamed, S Hadley, D W Gropman, A L Burstein, A H Escolar, D M Hoffman, E P Fischbeck, K H Producer: 20010628 In: Annals of neurology vol. 49 Availability: No items available. Save to lists Add to cart (remove)
	2082.	Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism. [electronic resource] by De Sanctis, Luisa Romagnolo, Damiano Olivero, Martina Buzi, Fabio Maghnie, Mohamad Scirè, Giuseppe Crino, Antonio Baroncelli, Giampiero Igli Salerno, Mariacarolina Di Maio, Salvatore Cappa, Marco Grosso, Salvatore Rigon, Franco Lala, Roberto De Sanctis, Carlo Dianzani, Irma Producer: 20031204 In: Pediatric research vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2083.	Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families. [electronic resource] by Kozák, L Francová, H Hrabincová, E Procházková, D Jüttnerová, V Bzdúch, V Simek, P Producer: 20001116 In: Journal of inherited metabolic disease vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2084.	Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene? [electronic resource] by Ware, M D DeSilva, D Sinilnikova, O M Stoppa-Lyonnet, D Tavtigian, S V Mazoyer, S Producer: 20060216 In: Oncogene vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2085.	The 185delAG mutation (c.68_69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon. [electronic resource] by Buisson, Monique Anczuków, Olga Zetoune, Almoutassem B Ware, Mark D Mazoyer, Sylvie Producer: 20061002 In: Human mutation vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2086.	Recurrent nephrotic syndrome in homozygous truncating NPHS2 mutation is not due to anti-podocin antibodies. [electronic resource] by Becker-Cohen, R Bruschi, M Rinat, C Feinstein, S Zennaro, C Ghiggeri, G M Frishberg, Y Producer: 20070305 In: American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2087.	A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome. [electronic resource] by Brosch, Sibylle Baur, Manuela Blin, Nikolaus Reinert, Siegmar Pfister, Markus Producer: 20070823 In: International journal of molecular medicine vol. 20 Availability: No items available. Save to lists Add to cart (remove)
	2088.	Detection of a novel SPG4-nonsense-mutation in a large German pedigree with pure spastic paraplegia. [electronic resource] by Bürk, K Dalski, A Purmann, S Zühlke, C Producer: 20060104 In: Journal of neurology vol. 252 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2089.	Reconstructing the evolutionary history of microcephalin, a gene controlling human brain size. [electronic resource] by Evans, Patrick D Anderson, Jeffrey R Vallender, Eric J Choi, Sun Shim Lahn, Bruce T Producer: 20041109 In: Human molecular genetics vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2090.	Factor XI deficiency in Southern Iran: identification of a novel missense mutation. [electronic resource] by Karimi, Mehran Jafari, Hamta Lahsaeizadeh, Saba Afrasiabi, Abdolreza Akbari, Ahmad Dehbozorgian, Javad Ardeshiri, Rezvan Guella, Ilaria Asselta, Rosanna Peyvandi, Flora Producer: 20090401 In: Annals of hematology vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2091.	A known SOST gene mutation causes sclerosteosis in a familial and an isolated case from Brazilian origin. [electronic resource] by Kim, Chong Ae Honjo, Rachel Bertola, Débora Albano, Lílian Oliveira, Luiz Jales, Sumatra Siqueira, José Castilho, Arthur Balemans, Wendy Piters, Elke Jennes, Karen Van Hul, Wim Producer: 20090303 In: Genetic testing vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2092.	The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. [electronic resource] by Gordillo, Miriam Vega, Hugo Trainer, Alison H Hou, Fajian Sakai, Norio Luque, Ricardo Kayserili, Hülya Basaran, Seher Skovby, Flemming Hennekam, Raoul C M Uzielli, Maria L Giovannucci Schnur, Rhonda E Manouvrier, Sylvie Chang, Susan Blair, Edward Hurst, Jane A Forzano, Francesca Meins, Moritz Simola, Kalle O J Raas-Rothschild, Annick Schultz, Roger A McDaniel, Lisa D Ozono, Keiichi Inui, Koji Zou, Hui Jabs, Ethylin Wang Producer: 20080807 In: Human molecular genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2093.	Mutations of PTEN gene in gliomas correlate to tumor differentiation and short-term survival rate. [electronic resource] by Yang, Yiling Shao, Naiyuan Luo, Guanghua Li, Lu Zheng, Lu Nilsson-Ehle, Peter Xu, Ning Producer: 20100518 In: Anticancer research vol. 30 Availability: No items available. Save to lists Add to cart (remove)
	2094.	The production of 85 kDa N-terminal fragment of apolipoprotein B in mutant HepG2 cells generated by targeted modification of apoB gene occurs by ALLN-inhibitable protease cleavage during translocation. [electronic resource] by Srivastava, Neelam Cefalu, A B Noto, Davide Schonfeld, Gustav Averna, Maurizio Srivastava, Rai Ajit K Producer: 20100903 In: Biochemical and biophysical research communications vol. 398 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2095.	Genetic polymorphism analysis of cytochrome P4502E1 (CYP2E1) in Chinese Han populations from four different geographic areas of Mainland China. [electronic resource] by Tang, Kefu Li, Xin Xing, Qinghe Li, Weidong Feng, Guoyin He, Lin Qin, Shengying Producer: 20100708 In: Genomics vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2096.	Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation. [electronic resource] by Wang, Kang Zhao, Xiaoyu Du, Yue He, Fangping Peng, Guoping Luo, Benyan Producer: 20140411 In: Brain & development vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2097.	Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry. [electronic resource] by Wilcox, William R Linthorst, Gabor E Germain, Dominique P Feldt-Rasmussen, Ulla Waldek, Stephen Richards, Susan M Beitner-Johnson, Dana Cizmarik, Marta Cole, J Alexander Kingma, Wytske Warnock, David G Producer: 20120716 In: Molecular genetics and metabolism vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2098.	Systematic search for neutropenia should be part of the first screening in patients with poikiloderma. [electronic resource] by Piard, Juliette Holder-Espinasse, Muriel Aral, Bernard Gigot, Nadège Rio, Marlène Tardieu, Marc Puzenat, Eve Goldenberg, Alice Toutain, Annick Franques, Jerôme MacDermot, Kay Bessis, Didier Boute, Odile Callier, Patrick Gueneau, Lucie Huet, Frédéric Vabres, Pierre Catteau, Benoît Faivre, Laurence Thauvin-Robinet, Christel Producer: 20120605 In: European journal of medical genetics vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2099.	Molecular diagnosis of analbuminemia: a new case caused by a nonsense mutation in the albumin gene. [electronic resource] by Dagnino, Monica Caridi, Gianluca Haenni, Ueli Duss, Adrian Aregger, Fabienne Campagnoli, Monica Galliano, Monica Minchiotti, Lorenzo Producer: 20141230 In: International journal of molecular sciences vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2100.	Cornelia de Lange Syndrome with NIPBL gene mutation: a case report. [electronic resource] by Park, Kyung-Hee Lee, Seung-Tae Ki, Chang-Seok Byun, Shin-Yun Producer: 20110407 In: Journal of Korean medical science vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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