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	3181.	Novel point mutations in complete androgen insensitivity syndrome with incomplete müllerian regression: two Taiwanese patients. [electronic resource] by Van, Yang-Hau Lin, Ju-Li Huang, Shiu-Feng Luo, Chih-Cheng Hwang, Chen-Sheng Lo, Fu-Sung Producer: 20040317 In: European journal of pediatrics vol. 162 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3182.	PCR-generated artificial ribosomal DNAs from premature termination at Alu sequences. [electronic resource] by Kupriyanova, N S Shibalev, D V Voronov, A S Ryskov, A P Producer: 20040901 In: Biomolecular engineering vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3183.	The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene. [electronic resource] by van den Ende, J J Mattelaer, P Declau, F Vanhoenacker, F Claes, J Van Hul, E Baten, E Producer: 20051017 In: Clinical dysmorphology vol. 14 Availability: No items available. Save to lists Add to cart (remove)
	3184.	High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss. [electronic resource] by Alvarez, Araceli del Castillo, Ignacio Villamar, Manuela Aguirre, Luis A González-Neira, Anna López-Nevot, Alicia Moreno-Pelayo, Miguel A Moreno, Felipe Producer: 20051017 In: American journal of medical genetics. Part A vol. 137A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3185.	Designing a neural network for the constraint optimization of the fitness functions devised based on the load minimization of the genetic code. [electronic resource] by Goodarzi, Hani Najafabadi, Hamed Shateri Torabi, Noorossadat Producer: 20050929 In: Bio Systems vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3186.	Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family. [electronic resource] by Lee, Kyu Yup Kim, Sunghee Kim, Un Kyung Ki, Chang-Seok Lee, Sang Heun Producer: 20070320 In: International journal of pediatric otorhinolaryngology vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3187.	Inactivation of RB1 in mantle-cell lymphoma detected by nonsense-mediated mRNA decay pathway inhibition and microarray analysis. [electronic resource] by Pinyol, Magda Bea, Silvia Plà, Laura Ribrag, Vincent Bosq, Jacques Rosenwald, Andreas Campo, Elias Jares, Pedro Producer: 20070913 In: Blood vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3188.	Bilateral epiretinal membranes in Gorlin syndrome associated with a novel PTCH mutation. [electronic resource] by Scott, Andrew Strouthidis, Nicholas G Robson, Anthony G Forsyth, Joan Maher, Eamonn R Schlottmann, Patricio G Michaelides, Michel Producer: 20070301 In: American journal of ophthalmology vol. 143 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3189.	Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene. [electronic resource] by Zhang, Guolong Huang, Yijin Yan, Kailin Li, Wei Fan, Xing Liang, Yanhua Sun, Liangdan Li, Hui Zhang, Shumei Gao, Min Du, Wenhui Yang, Sen Liu, Jianjun Zhang, Xuejun Producer: 20070118 In: Experimental dermatology vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3190.	Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2. [electronic resource] by Graves, Tracey D Imbrici, Paola Kors, Esther E Terwindt, Gisela M Eunson, Louise H Frants, Rune R Haan, Joost Ferrari, Michel D Goadsby, Peter J Hanna, Michael G van den Maagdenberg, Arn M J M Kullmann, Dimitri M Producer: 20090521 In: Neurobiology of disease vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3191.	Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3). [electronic resource] by Degiorgio, Dario Colombo, Carla Seia, Manuela Porcaro, Luigi Costantino, Lucy Zazzeron, Laura Bordo, Domenico Coviello, Domenico A Producer: 20080122 In: European journal of human genetics : EJHG vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3192.	Novel clinical and molecular findings in Chinese families with dyschromatosis symmetrica hereditaria. [electronic resource] by Luo, Suju Zheng, Yan Ni, Haiyang Liu, Yan Liu, Yuanjun Li, Xiaoli Liu, Quanzhong Producer: 20120906 In: The Journal of dermatology vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3193.	Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency. [electronic resource] by Branchini, Alessio Rizzotto, Lara Mariani, Guglielmo Napolitano, Mariasanta Lapecorella, Mario Giansily-Blaizot, Muriel Mari, Rosella Canella, Alessandro Pinotti, Mirko Bernardi, Francesco Producer: 20120906 In: Haematologica vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3194.	Pharmacologically targeting the primary defect and downstream pathology in Duchenne muscular dystrophy. [electronic resource] by Fairclough, Rebecca J Perkins, Kelly J Davies, Kay E Producer: 20121231 In: Current gene therapy vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3195.	Tobramycin is a suppressor of premature termination codons. [electronic resource] by Altamura, Nicola Castaldo, Rosa Finotti, Alessia Breveglieri, Giulia Salvatori, Francesca Zuccato, Cristina Gambari, Roberto Panin, Giulia Chiara Borgatti, Monica Producer: 20140929 In: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3196.	A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family. [electronic resource] by Yu, Yibo Yu, Yinhui Chen, Peiqing Li, Jinyu Zhu, Yanan Zhai, Yi Yao, Ke Producer: 20140319 In: BMC medical genetics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3197.	Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait. [electronic resource] by Takeichi, T Nanda, A Liu, L Aristodemou, S McMillan, J R Sugiura, K Akiyama, M Al-Ajmi, H Simpson, M A McGrath, J A Producer: 20151110 In: The British journal of dermatology vol. 172 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3198.	A pedigree analysis of two homozygous mutant Gitelman syndrome cases. [electronic resource] by Luo, Jiewei Yang, Xiao Liang, Jixing Li, Weihua Producer: 20151203 In: Endocrine journal vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3199.	Genetic polymorphisms of dihydropyrimidinase in a Japanese patient with capecitabine-induced toxicity. [electronic resource] by Hiratsuka, Masahiro Yamashita, Hiroshi Akai, Fumika Hosono, Hiroki Hishinuma, Eiji Hirasawa, Noriyasu Mori, Takahiro Producer: 20160125 In: PloS one vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3200.	A novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration. [electronic resource] by Lu, Fang Huang, Lulin Lei, Chuntao Sha, Guiquan Zheng, Hong Liu, Xiaoqi Yang, Jiyun Shi, Yi Lin, Ying Gong, Bo Zhu, Xianjun Ma, Shi Qiao, Lifeng Lin, He Cheng, Jing Yang, Zhenglin Producer: 20140722 In: PloS one vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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