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	3781.	Aminoglycosides restore full-length type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa. [electronic resource] by Cogan, Jon Weinstein, Jacqueline Wang, Xinyi Hou, Yingping Martin, Sabrina South, Andrew P Woodley, David T Chen, Mei Producer: 20150610 In: Molecular therapy : the journal of the American Society of Gene Therapy vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3782.	Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia. [electronic resource] by Diener, Susanne Bayer, Sieglinde Sabrautzki, Sibylle Wieland, Thomas Mentrup, Birgit Przemeck, Gerhard K H Rathkolb, Birgit Graf, Elisabeth Hans, Wolfgang Fuchs, Helmut Horsch, Marion Schwarzmayr, Thomas Wolf, Eckhard Klopocki, Eva Jakob, Franz Strom, Tim M Hrabě de Angelis, Martin Lorenz-Depiereux, Bettina Producer: 20161219 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)
	3783.	Toll-like receptor signaling induces the expression of lympho-epithelial Kazal-type inhibitor in epidermal keratinocytes. [electronic resource] by Sugimoto, Saeko Morizane, Shin Nomura, Hayato Kobashi, Mina Sugihara, Satoru Iwatsuki, Keiji Producer: 20190218 In: Journal of dermatological science vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3784.	Amyotrophic Lateral Sclerosis associated FUS mutation shortens mitochondria and induces neurotoxicity. [electronic resource] by Nakaya, Tadashi Maragkakis, Manolis Producer: 20191119 In: Scientific reports vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3785.	NLRX1 inhibits the early stages of CNS inflammation and prevents the onset of spontaneous autoimmunity. [electronic resource] by Gharagozloo, Marjan Mahmoud, Shaimaa Simard, Camille Yamamoto, Kenzo Bobbala, Diwakar Ilangumaran, Subburaj Smith, Matthew D Lamontagne, Albert Jarjoura, Samir Denault, Jean-Bernard Blais, Véronique Gendron, Louis Vilariño-Güell, Carles Sadovnick, A Dessa Ting, Jenny P Calabresi, Peter A Amrani, Abdelaziz Gris, Denis Producer: 20200205 In: PLoS biology vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3786.	Extensive RNA editing of U to C in addition to C to U substitution in the rbcL transcripts of hornwort chloroplasts and the origin of RNA editing in green plants. [electronic resource] by Yoshinaga, K Iinuma, H Masuzawa, T Uedal, K Producer: 19960516 In: Nucleic acids research vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3787.	Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex. [electronic resource] by Corden, L D Mellerio, J E Gratian, M J Eady, R A Harper, J I Lacour, M Magee, G Lane, E B McGrath, J A McLean, W H Producer: 19980604 In: Human mutation vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3788.	Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. [electronic resource] by Jen, J Wan, J Graves, M Yu, H Mock, A F Coulin, C J Kim, G Yue, Q Papazian, D M Baloh, R W Producer: 20020117 In: Neurology vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3789.	[Familial hyperchylomicronemia with a new mutation of the lipoprotein lipase gene]. [electronic resource] by Causeret, A S Souillet, A L Marcais, C Prunetta, V Lachaux, A Faure, M Claudy, A Producer: 20020701 In: Annales de dermatologie et de venereologie vol. 128 Availability: No items available. Save to lists Add to cart (remove)
	3790.	Inactivation of the acrA gene is partially responsible for chloramphenicol sensitivity of Escherichia coli CM2555 strain expressing the chloramphenicol acetyltransferase gene. [electronic resource] by Potrykus, Joanna Barańska, Sylwia Wegrzyn, Grzegorz Producer: 20030328 In: Microbial drug resistance (Larchmont, N.Y.) vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3791.	Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene. [electronic resource] by Lucas, Miguel Costa, Alzenire F García-Moreno, José M Solano, Francisca Gamero, Miguel A Izquierdo, Guillermo Producer: 20031125 In: BMC neurology vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3792.	Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene. [electronic resource] by Anwar, Rashida Gallivan, Louise Richards, Michael Khair, Kate Wright, Michael Minford, Adrian Producer: 20060822 In: Haematologica vol. 90 Availability: No items available. Save to lists Add to cart (remove)
	3793.	Automated sequence screening of the entire dystrophin cDNA in Duchenne dystrophy: point mutation detection. [electronic resource] by Hamed, Sherifa Ahmed Hoffman, Eric P Producer: 20060328 In: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics vol. 141B Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3794.	Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome. [electronic resource] by Nectoux, J Heron, D Tallot, M Chelly, J Bienvenu, T Producer: 20060928 In: Clinical genetics vol. 70 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3795.	Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP). [electronic resource] by Phillips, John D Whitby, Frank G Stadtmueller, Beth M Edwards, Corwin Q Hill, Christopher P Kushner, James P Producer: 20070308 In: Translational research : the journal of laboratory and clinical medicine vol. 149 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3796.	Arabidopsis enhanced ethylene response 4 encodes an EIN3-interacting TFIID transcription factor required for proper ethylene response, including ERF1 induction. [electronic resource] by Robles, Linda M Wampole, Jessica S Christians, Matthew J Larsen, Paul B Producer: 20080102 In: Journal of experimental botany vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3797.	DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese. [electronic resource] by Lam, Ching-Wan Lee, Allen Ting-Chun Lam, Yuen-Yu Wong, Tak-Wai Mak, Tony Wing-Lai Fung, Wai-Ching Chan, Kwok-Chiu Ho, Che-Shun Tong, Sui-Fan Producer: 20050318 In: Molecular genetics and metabolism vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3798.	Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. [electronic resource] by Colige, Alain Nuytinck, Lieve Hausser, Ingrid van Essen, Anthonie J Thiry, Marc Herens, Christian Adès, Lesley C Malfait, Fransiska Paepe, Anne De Franck, Peter Wolff, Gerhard Oosterwijk, Jan C Smitt, J H Sillevis Lapière, Charles M Nusgens, Betty V Producer: 20041108 In: The Journal of investigative dermatology vol. 123 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3799.	SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes. [electronic resource] by Kiefer, Susan M Robbins, Lynn Barina, Andrew Zhang, Zhihong Rauchman, Michael Producer: 20081124 In: Human mutation vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3800.	Identification of mobile elements and pseudogenes in the Shewanella oneidensis MR-1 genome. [electronic resource] by Romine, Margaret F Carlson, Timothy S Norbeck, Angela D McCue, Lee Ann Lipton, Mary S Producer: 20080527 In: Applied and environmental microbiology vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 5852 results.