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	5041.	A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary veins, intestinal malrotation and annular pancreas. [electronic resource] by Miranda, Joana Rocha, Gustavo Soares, Paulo Morgado, Hélder Baptista, Maria João Azevedo, Inês Fernandes, Susana Brandão, Otília Sen, Partha Guimarães, Hercília Producer: 20140121 In: Neonatology vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5042.	Validation of companion diagnostic for detection of mutations in codons 12 and 13 of the KRAS gene in patients with metastatic colorectal cancer: analysis of the NCIC CTG CO.17 trial. [electronic resource] by Harbison, Christopher T Horak, Christine E Ledeine, Jean-Marie Mukhopadhyay, Pralay Malone, Daniel P O'Callaghan, Chris Jonker, Derek J Karapetis, Christos S Khambata-Ford, Shirin Gustafson, Nancy Trifan, Ovidiu C Chang, Shao-Chun Ravetto, Paul Iv, George A Green Producer: 20130730 In: Archives of pathology & laboratory medicine vol. 137 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5043.	ENU mutagenesis identifies the first mouse mutants reproducing human β-thalassemia at the genomic level. [electronic resource] by Brown, Fiona C Scott, Nicholas Rank, Gerhard Collinge, Janelle E Vadolas, Jim Vickaryous, Nicola Whitelaw, Nadia Whitelaw, Emma Kile, Benjamin T Jane, Stephen M Curtis, David J Producer: 20130703 In: Blood cells, molecules & diseases vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5044.	Different CHEK2 germline mutations are associated with distinct immunophenotypic molecular subtypes of breast cancer. [electronic resource] by Domagala, Pawel Wokolorczyk, Dominika Cybulski, Cezary Huzarski, Tomasz Lubinski, Jan Domagala, Wenancjusz Producer: 20120822 In: Breast cancer research and treatment vol. 132 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5045.	Mutations of p53 gene in breast cancer in the Egyptian province of Dakahliya. [electronic resource] by El-Ghannam, Doaa M Arafa, Mohammad Badrawy, Tarek Producer: 20110912 In: Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5046.	Laser photocoagulation at birth prevents blindness in Norrie's disease diagnosed using amniocentesis. [electronic resource] by Chow, Clement C Kiernan, Daniel F Chau, Felix Y Blair, Michael P Ticho, Benjamin H Galasso, John M Shapiro, Michael J Producer: 20110112 In: Ophthalmology vol. 117 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5047.	Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy. [electronic resource] by Ishii, Atsushi Kanaumi, Takeshi Sohda, Miwa Misumi, Yoshio Zhang, Bo Kakinuma, Naoto Haga, Yoshiko Watanabe, Kazuyoshi Takeda, Sen Okada, Motohiro Ueno, Shinya Kaneko, Sunao Takashima, Sachio Hirose, Shinichi Producer: 20141030 In: Epilepsy research vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5048.	Absence of cardiovascular manifestations in a haploinsufficient Tgfbr1 mouse model. [electronic resource] by Renard, Marjolijn Trachet, Bram Casteleyn, Christophe Campens, Laurence Cornillie, Pieter Callewaert, Bert Deleye, Steven Vandeghinste, Bert van Heijningen, Paula M Dietz, Harry De Vos, Filip Essers, Jeroen Staelens, Steven Segers, Patrick Loeys, Bart Coucke, Paul De Paepe, Anne De Backer, Julie Producer: 20150122 In: PloS one vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5049.	Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. [electronic resource] by Marshall, Christian R Scherer, Stephen W Zariwala, Maimoona A Lau, Lynette Paton, Tara A Stockley, Tracy Jobling, Rebekah K Ray, Peter N Knowles, Michael R Hall, David A Dell, Sharon D Kim, Raymond H Producer: 20160512 In: G3 (Bethesda, Md.) vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5050.	Characterization of novel Brown midrib 6 mutations affecting lignin biosynthesis in sorghum. [electronic resource] by Scully, Erin D Gries, Tammy Funnell-Harris, Deanna L Xin, Zhanguo Kovacs, Frank A Vermerris, Wilfred Sattler, Scott E Producer: 20161024 In: Journal of integrative plant biology vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5051.	Organizing principles of mammalian nonsense-mediated mRNA decay. [electronic resource] by Popp, Maximilian Wei-Lin Maquat, Lynne E Producer: 20140414 In: Annual review of genetics vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5052.	Widespread use of non-productive alternative splice sites in Saccharomyces cerevisiae. [electronic resource] by Kawashima, Tadashi Douglass, Stephen Gabunilas, Jason Pellegrini, Matteo Chanfreau, Guillaume F Producer: 20141124 In: PLoS genetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5053.	Viral FGARAT ORF75A promotes early events in lytic infection and gammaherpesvirus pathogenesis in mice. [electronic resource] by Van Skike, Nick D Minkah, Nana K Hogan, Chad H Wu, Gary Benziger, Peter T Oldenburg, Darby G Kara, Mehmet Kim-Holzapfel, Deborah M White, Douglas W Tibbetts, Scott A French, Jarrod B Krug, Laurie T Producer: 20180622 In: PLoS pathogens vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5054.	Gentamicin Induces Laminin 332 and Improves Wound Healing in Junctional Epidermolysis Bullosa Patients with Nonsense Mutations. [electronic resource] by Kwong, Andrew Cogan, Jon Hou, Yingping Antaya, Richard Hao, Michelle Kim, Gene Lincoln, Vadim Chen, Qiuyang Woodley, David T Chen, Mei Producer: 20210607 In: Molecular therapy : the journal of the American Society of Gene Therapy vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5055.	An engineered Tetrahymena tRNAGln for in vivo incorporation of unnatural amino acids into proteins by nonsense suppression. [electronic resource] by Saks, M E Sampson, J R Nowak, M W Kearney, P C Du, F Abelson, J N Lester, H A Dougherty, D A Producer: 19961119 In: The Journal of biological chemistry vol. 271 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5056.	Homozygous nonsense mutation in the insulin receptor gene of a patient with severe congenital insulin resistance: leprechaunism and the role of the insulin-like growth factor receptor. [electronic resource] by Jospe, N Kaplowitz, P B Furlanetto, R W Producer: 19961218 In: Clinical endocrinology vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5057.	Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. [electronic resource] by Maxwell, Megan A Allen, Tamara Solly, Pamela B Svingen, Terje Paton, Barbara C Crane, Denis I Producer: 20030103 In: Human mutation vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5058.	Analysis of exon 1 mutations in the androgen receptor gene. [electronic resource] by Gottlieb, B Vasiliou, D M Lumbroso, R Beitel, L K Pinsky, L Trifiro, M A Producer: 20000124 In: Human mutation vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5059.	Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation. [electronic resource] by Servedio, Veronica d'Apolito, Maria Maiorano, Nunzia Minuti, Barbara Torricelli, Francesca Ronchi, Flavio Zancan, Lucia Perrotta, Silverio Vajro, Pietro Boschetto, Loredana Iolascon, Achille Producer: 20060516 In: Human mutation vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5060.	Mutation identification in a canine model of X-linked ectodermal dysplasia. [electronic resource] by Casal, Margret L Scheidt, Jennifer L Rhodes, James L Henthorn, Paula S Werner, Petra Producer: 20060210 In: Mammalian genome : official journal of the International Mammalian Genome Society vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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