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	1981.	Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. [electronic resource] by Houlden, Henry Johnson, Janel Gardner-Thorpe, Christopher Lashley, Tammaryn Hernandez, Dena Worth, Paul Singleton, Andrew B Hilton, David A Holton, Janice Revesz, Tamas Davis, Mary B Giunti, Paola Giunti, Paolo Wood, Nicholas W Producer: 20071211 In: Nature genetics vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1982.	Endonucleases: tools to correct the dystrophin gene. [electronic resource] by Rousseau, Joel Chapdelaine, Pierre Boisvert, Sébastien Almeida, Luciana P Corbeil, Jacques Montpetit, Alexandre Tremblay, Jacques P Producer: 20120223 In: The journal of gene medicine vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1983.	High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease. [electronic resource] by Pottier, C Hannequin, D Coutant, S Rovelet-Lecrux, A Wallon, D Rousseau, S Legallic, S Paquet, C Bombois, S Pariente, J Thomas-Anterion, C Michon, A Croisile, B Etcharry-Bouyx, F Berr, C Dartigues, J-F Amouyel, P Dauchel, H Boutoleau-Bretonnière, C Thauvin, C Frebourg, T Lambert, J-C Campion, D Producer: 20130123 In: Molecular psychiatry vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1984.	Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations. [electronic resource] by Pinotti, Mirko Caruso, Pierpaolo Canella, Alessandro Campioni, Matteo Tagariello, Giuseppe Castaman, Giancarlo Giacomelli, Sofia Belvini, Donata Bernardi, Francesco Producer: 20121213 In: Human mutation vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1985.	Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation. [electronic resource] by Pan, Stephen Caleshu, Colleen A Dunn, Kyla E Foti, Marcia J Moran, Maura K Soyinka, Oretunlewa Ashley, Euan A Producer: 20130801 In: Circulation. Cardiovascular genetics vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1986.	Significant shift in median guinea pig infectious dose shown by an outbreak-associated Listeria monocytogenes epidemic clone strain and a strain carrying a premature stop codon mutation in inlA. [electronic resource] by Van Stelten, A Simpson, J M Chen, Y Scott, V N Whiting, R C Ross, W H Nightingale, K K Producer: 20110718 In: Applied and environmental microbiology vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1987.	Variation in Listeria monocytogenes dose responses in relation to subtypes encoding a full-length or truncated internalin A. [electronic resource] by Chen, Yuhuan Ross, William H Whiting, Richard C Van Stelten, Anna Nightingale, Kendra K Wiedmann, Martin Scott, Virginia N Producer: 20110822 In: Applied and environmental microbiology vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1988.	Engineering of an orthogonal aminoacyl-tRNA synthetase for efficient incorporation of the non-natural amino acid O-methyl-L-tyrosine using fluorescence-based bacterial cell sorting. [electronic resource] by Kuhn, Sebastian M Rubini, Marina Fuhrmann, Markus Theobald, Ina Skerra, Arne Producer: 20101206 In: Journal of molecular biology vol. 404 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1989.	Identification of the bovine Arachnomelia mutation by massively parallel sequencing implicates sulfite oxidase (SUOX) in bone development. [electronic resource] by Drögemüller, Cord Tetens, Jens Sigurdsson, Snaevar Gentile, Arcangelo Testoni, Stefania Lindblad-Toh, Kerstin Leeb, Tosso Producer: 20101228 In: PLoS genetics vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1990.	A new β⁰-thalassemia frameshift mutation [β 48 (-T)] in a Uruguayan family. [electronic resource] by Da Luz, J López, P Kimura, E M Albuquerque, D M Costa, F F Sans, M Sonati, M F Producer: 20130627 In: International journal of laboratory hematology vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1991.	The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort. [electronic resource] by García-García, Gema Besnard, Thomas Baux, David Vaché, Christel Aller, Elena Malcolm, Sue Claustres, Mireille Millan, Jose M Roux, Anne-Françoise Producer: 20130906 In: Molecular vision vol. 19 Availability: No items available. Save to lists Add to cart (remove)
	1992.	A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation. [electronic resource] by Neri, M Selvatici, R Scotton, C Trabanelli, C Armaroli, A De Grandis, D Levy, N Gualandi, F Ferlini, A Producer: 20140213 In: Neuromuscular disorders : NMD vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1993.	Excess of rare, inherited truncating mutations in autism. [electronic resource] by Krumm, Niklas Turner, Tychele N Baker, Carl Vives, Laura Mohajeri, Kiana Witherspoon, Kali Raja, Archana Coe, Bradley P Stessman, Holly A He, Zong-Xiao Leal, Suzanne M Bernier, Raphael Eichler, Evan E Producer: 20150807 In: Nature genetics vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1994.	FUBP1: a new protagonist in splicing regulation of the DMD gene. [electronic resource] by Miro, Julie Laaref, Abdelhamid Mahdi Rofidal, Valérie Lagrafeuille, Rosyne Hem, Sonia Thorel, Delphine Méchin, Déborah Mamchaoui, Kamel Mouly, Vincent Claustres, Mireille Tuffery-Giraud, Sylvie Producer: 20150702 In: Nucleic acids research vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1995.	A Novel Homozygous c.800C>G Substitution in GP1BA Exon 2 in a Kuwaiti Family with Bernard-Soulier Syndrome. [electronic resource] by Shlebak, Abdul Poles, Anthony Manning, Richard Almuhareb, Shaikha De La Funte, Josu Mitchell, Mike Lucas, Geoff Producer: 20151207 In: Acta haematologica vol. 134 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1996.	Novel BRCA1 deleterious mutation (c.1918C>T) in familial breast and ovarian cancer syndrome who share a common ancestry. [electronic resource] by Gabaldó Barrios, Xavier Sarabia Meseguer, María Desamparados Alonso Romero, José Luis Marín Vera, Miguel Marín Zafra, Gema Sánchez Henarejos, Pilar Sánchez Bermúdez, Ana Isabel Ruiz Espejo, Francisco Producer: 20150616 In: Familial cancer vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1997.	Further evidence for germline BAP1 mutations predisposing to melanoma and malignant mesothelioma. [electronic resource] by Cheung, Mitchell Talarchek, Jacqueline Schindeler, Karen Saraiva, Eduardo Penney, Lynette S Ludman, Mark Testa, Joseph R Producer: 20131001 In: Cancer genetics vol. 206 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1998.	Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease. [electronic resource] by Hao, Xiwei Liu, Shiguo Dong, Qian Zhang, Hong Zhao, Jing Su, Lin Producer: 20150611 In: PloS one vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1999.	Nonsense-mediated mRNA decay at the crossroads of many cellular pathways. [electronic resource] by Lejeune, Fabrice Producer: 20180117 In: BMB reports vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2000.	Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations. [electronic resource] by Branchini, Alessio Ferrarese, Mattia Campioni, Matteo Castaman, Giancarlo Mari, Rosella Bernardi, Francesco Pinotti, Mirko Producer: 20170814 In: Blood vol. 129 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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