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	3701.	Smg1 nonsense mutations do not abolish nonsense-mediated mRNA decay in Drosophila melanogaster. [electronic resource] by Chen, Zhenzhong Smith, Katherine R Batterham, Philip Robin, Charles Producer: 20060526 In: Genetics vol. 171 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3702.	Differential nonsense mediated decay of mutated mRNAs in mismatch repair deficient colorectal cancers. [electronic resource] by El-Bchiri, Jamila Buhard, Olivier Penard-Lacronique, Virginie Thomas, Gilles Hamelin, Richard Duval, Alex Producer: 20051020 In: Human molecular genetics vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3703.	Analysis of the LAMB3 gene in a junctional epidermolysis bullosa patient reveals exonic splicing and allele-specific nonsense-mediated mRNA decay. [electronic resource] by Buchroithner, Birgit Klausegger, Alfred Ebschner, Ulrike Anton-Lamprecht, Ingrun Pohla-Gubo, Gabriele Lanschuetzer, Christoph M Laimer, Martin Hintner, Helmut Bauer, Johann W Producer: 20041014 In: Laboratory investigation; a journal of technical methods and pathology vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3704.	Probing genomic diversity and evolution of Escherichia coli O157 by single nucleotide polymorphisms. [electronic resource] by Zhang, Wei Qi, Weihong Albert, Thomas J Motiwala, Alifiya S Alland, David Hyytia-Trees, Eija K Ribot, Efrain M Fields, Patricia I Whittam, Thomas S Swaminathan, Bala Producer: 20060713 In: Genome research vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3705.	Identification of a novel mutation (C321X) in HJV. [electronic resource] by Huang, Franklin W Rubio-Aliaga, Isabel Kushner, James P Andrews, Nancy C Fleming, Mark D Producer: 20041104 In: Blood vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3706.	Identification of seven novel germline mutations in the human E-cadherin (CDH1) gene. [electronic resource] by More, H Humar, B Weber, W Ward, R Christian, A Lintott, C Graziano, F Ruzzo, A-M Acosta, E Boman, B Harlan, M Ferreira, P Seruca, R Suriano, G Guilford, P Producer: 20070228 In: Human mutation vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3707.	Lifetime cancer risks in individuals with germline PTEN mutations. [electronic resource] by Tan, Min-Han Mester, Jessica L Ngeow, Joanne Rybicki, Lisa A Orloff, Mohammed S Eng, Charis Producer: 20120801 In: Clinical cancer research : an official journal of the American Association for Cancer Research vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3708.	Non-expression of HLA-C*07:55N is caused by a premature stop codon in exon 3. [electronic resource] by Badrinath, S Blasczyk, R Bade-Doeding, C Producer: 20120814 In: Tissue antigens vol. 79 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3709.	Characterization of the melanocortin-4-receptor nonsense mutation W16X in vitro and in vivo. [electronic resource] by Bolze, F Rink, N Brumm, H Kühn, R Mocek, S Schwarz, A-E Kless, C Biebermann, H Wurst, W Rozman, J Klingenspor, M Producer: 20131025 In: The pharmacogenomics journal vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3710.	Gene repair of an Usher syndrome causing mutation by zinc-finger nuclease mediated homologous recombination. [electronic resource] by Overlack, Nora Goldmann, Tobias Wolfrum, Uwe Nagel-Wolfrum, Kerstin Producer: 20121217 In: Investigative ophthalmology & visual science vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3711.	Multiple primary malignancies and subtle mucocutaneous lesions associated with a novel PTEN gene mutation in a patient with Cowden syndrome: case report. [electronic resource] by Vasovčák, Peter Senkeříková, Mária Hatlová, Jana Křepelová, Anna Producer: 20110523 In: BMC medical genetics vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3712.	The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele. [electronic resource] by Aubart, Mélodie Gross, Marie-Sylvie Hanna, Nadine Zabot, Marie-Thérèse Sznajder, Marc Detaint, Delphine Gouya, Laurent Jondeau, Guillaume Boileau, Catherine Stheneur, Chantal Producer: 20160129 In: Human molecular genetics vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3713.	ENAM mutations with incomplete penetrance. [electronic resource] by Seymen, F Lee, K-E Koruyucu, M Gencay, K Bayram, M Tuna, E B Lee, Z H Kim, J-W Producer: 20150109 In: Journal of dental research vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3714.	Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient. [electronic resource] by Carmona, Susana da Luz Freitas, Maria Froufe, Hugo Simões, Maria José Sampaio, Maria João Silva, Eduardo D Egas, Conceição Producer: 20180621 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3715.	Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree. [electronic resource] by Fernández-Martínez, Lorena Villegas, José Antonio Santamaría, Íñigo Pitiot, Ana S Alvarado, Marta G Fernández, Soledad Torres, Héctor Paredes, Ángeles Blay, Pilar Balbín, Milagros Producer: 20180202 In: BMC cancer vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3716.	Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities. [electronic resource] by Horn, Denise Siebert, Eberhard Seidel, Ulrich Rost, Imma Mayer, Karin Abou Jamra, Rami Mitter, Diana Kornak, Uwe Producer: 20171130 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3717.	Molecular analysis distinguishes metastatic disease from second cancers in patients with retinoblastoma. [electronic resource] by Racher, Hilary Soliman, Sameh Argiropoulos, Bob Chan, Helen S L Gallie, Brenda L Perrier, Renée Matevski, Donco Rushlow, Diane Piovesan, Beata Shaikh, Furqan MacDonald, Heather Corson, Timothy W Producer: 20170522 In: Cancer genetics vol. 209 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3718.	A brachytic dwarfism trait (dw) in peach trees is caused by a nonsense mutation within the gibberellic acid receptor PpeGID1c. [electronic resource] by Hollender, Courtney A Hadiarto, Toto Srinivasan, Chinnathambi Scorza, Ralph Dardick, Chris Producer: 20161213 In: The New phytologist vol. 210 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3719.	HLA-A24:388N: a novel HLA-A24 allele identified by sequence-based typing. [electronic resource] by Wang, D Yang, X Chai, X Fang, J Zhang, X Producer: 20180627 In: HLA vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3720.	Impaired adipogenic capacity in induced pluripotent stem cells from lipodystrophic patients with BSCL2 mutations. [electronic resource] by Mori, Eisaku Fujikura, Junji Noguchi, Michio Nakao, Kazuhiro Matsubara, Masaki Sone, Masakatsu Taura, Daisuke Kusakabe, Toru Ebihara, Ken Tanaka, Takayuki Hosoda, Kiminori Takahashi, Kazutoshi Asaka, Isao Inagaki, Nobuya Nakao, Kazuwa Producer: 20160725 In: Metabolism: clinical and experimental vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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