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	4361.	Novel somatic mutations in the BRCA1 gene in sporadic breast tumors. [electronic resource] by Janatova, Marketa Zikan, Michal Dundr, Pavel Matous, Bohuslav Pohlreich, Petr 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)
	4362.	Positional cloning and characterization of mouse mei8, a disrupted allelle of the meiotic cohesin Rec8. [electronic resource] by Bannister, Laura A Reinholdt, Laura G Munroe, Robert J Schimenti, John C Producer: 20050421 In: Genesis (New York, N.Y. : 2000) vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4363.	The analysis of cell division and cell wall synthesis genes reveals mutationally inactivated ftsQ and mraY in a protoplast-type L-form of Escherichia coli. [electronic resource] by Siddiqui, Roman A Hoischen, Christian Holst, Otto Heinze, Ivonne Schlott, Bernhard Gumpert, Johannes Diekmann, Stephan Grosse, Frank Platzer, Matthias Producer: 20060724 In: FEMS microbiology letters vol. 258 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4364.	Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans. [electronic resource] by Wu, Huimin Cowing, Jill A Michaelides, Michel Wilkie, Susan E Jeffery, Glen Jenkins, Sharon A Mester, Viktoria Bird, Alan C Robson, Anthony G Holder, Graham E Moore, Anthony T Hunt, David M Webster, Andrew R Producer: 20061019 In: American journal of human genetics vol. 79 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4365.	An alternative branch of the nonsense-mediated decay pathway. [electronic resource] by Chan, Wai-Kin Huang, Lulu Gudikote, Jayanthi P Chang, Yao-Fu Imam, J Saadi MacLean, James A Wilkinson, Miles F Producer: 20070514 In: The EMBO journal vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4366.	Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation. [electronic resource] by Hsieh, Elena W Y Vargervik, Karin Slavotinek, Anne M Producer: 20080911 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4367.	Prenatal diagnosis of chronic granulomatous disease in a male fetus. [electronic resource] by Yavuz Köker, M Metin, Ayşe Ozgür, Tuba T de Boer, Martin Roos, Dirk Producer: 20090828 In: Iranian journal of allergy, asthma, and immunology vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4368.	Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine. [electronic resource] by de Vries, B Freilinger, T Vanmolkot, K R J Koenderink, J B Stam, A H Terwindt, G M Babini, E van den Boogerd, E H van den Heuvel, J J M W Frants, R R Haan, J Pusch, M van den Maagdenberg, A M J M Ferrari, M D Dichgans, M Producer: 20071214 In: Neurology vol. 69 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4369.	Gender differences in expression of the human caspase-12 long variant determines susceptibility to Listeria monocytogenes infection. [electronic resource] by Yeretssian, Garabet Doiron, Karine Shao, Wei Leavitt, Blair R Hayden, Michael R Nicholson, Donald W Saleh, Maya Producer: 20090617 In: Proceedings of the National Academy of Sciences of the United States of America vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4370.	New mutations in the Wilson disease gene, ATP7B: implications for molecular testing. [electronic resource] by Davies, Lisa Prat Macintyre, Georgina Cox, Diane W Producer: 20080612 In: Genetic testing vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4371.	Analysis of mutational status, SNP rs16754, and expression levels of Wilms tumor 1 (WT1) gene in acute promyelocytic leukemia. [electronic resource] by Gaur, Girish Chander Ramadan, Safaa M Cicconi, Laura Noguera, Nélida I Luna, Irene Such, Esperanza Lavorgna, Serena Di Giandomenico, Jonny Sanz, Miguel A Lo-Coco, Francesco Producer: 20130116 In: Annals of hematology vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4372.	Comprehensive analysis of desmosomal gene mutations in Han Chinese patients with arrhythmogenic right ventricular cardiomyopathy. [electronic resource] by Zhou, Xiujuan Chen, Minglong Song, Hualian Wang, Benqi Chen, Hongwu Wang, Jing Wang, Wei Feng, Shangpeng Zhang, Fengxiang Ju, Weizhu Li, Mingfang Gu, Kai Cao, Kejiang Wang, Dao W Yang, Bing Producer: 20160128 In: European journal of medical genetics vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4373.	Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis. [electronic resource] by Field, Martha S Kamynina, Elena Watkins, David Rosenblatt, David S Stover, Patrick J Producer: 20150430 In: Proceedings of the National Academy of Sciences of the United States of America vol. 112 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4374.	A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. [electronic resource] by Helsmoortel, Céline Vulto-van Silfhout, Anneke T Coe, Bradley P Vandeweyer, Geert Rooms, Liesbeth van den Ende, Jenneke Schuurs-Hoeijmakers, Janneke H M Marcelis, Carlo L Willemsen, Marjolein H Vissers, Lisenka E L M Yntema, Helger G Bakshi, Madhura Wilson, Meredith Witherspoon, Kali T Malmgren, Helena Nordgren, Ann Annerén, Göran Fichera, Marco Bosco, Paolo Romano, Corrado de Vries, Bert B A Kleefstra, Tjitske Kooy, R Frank Eichler, Evan E Van der Aa, Nathalie Producer: 20140519 In: Nature genetics vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4375.	Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder. [electronic resource] by Tang, Fengzhu Ma, Dengke Wang, Yulan Qiu, Yuecai Liu, Fei Wang, Qingqing Lu, Qiutian Shi, Min Xu, Liang Liu, Min Liang, Jianping Producer: 20170515 In: BMC medical genetics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4376.	Whole-exome sequencing identifies a novel mutation of GPD1L (R189X) associated with familial conduction disease and sudden death. [electronic resource] by Huang, Hao Chen, Ya-Qin Fan, Liang-Liang Guo, Shuai Li, Jing-Jing Jin, Jie-Yuan Xiang, Rong Producer: 20190429 In: Journal of cellular and molecular medicine vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4377.	Ichthyosis as the dermatological phenotype associated with TTC7A mutations. [electronic resource] by Leclerc-Mercier, S Lemoine, R Bigorgne, A E Sepulveda, F Leveau, C Fischer, A Mahlaoui, N Hadj-Rabia, S de Saint Basile, G Producer: 20170911 In: The British journal of dermatology vol. 175 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4378.	Natural course of Fabry disease with the p. Arg227Ter (p.R227*) mutation in Finland: Fast study. [electronic resource] by Pietilä-Effati, Päivi Saarinen, Jukka T Löyttyniemi, Eliisa Autio, Reijo Saarenhovi, Maria Haanpää, Maria K Kantola, Ilkka Producer: 20200622 In: Molecular genetics & genomic medicine vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4379.	GATA6 loss-of-function mutation contributes to congenital bicuspid aortic valve. [electronic resource] by Xu, Ying-Jia Di, Ruo-Min Qiao, Qi Li, Xiu-Mei Huang, Ri-Tai Xue, Song Liu, Xing-Yuan Wang, Juan Yang, Yi-Qing Producer: 20180530 In: Gene vol. 663 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4380.	Massive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion. [electronic resource] by Lu, Q L Morris, G E Wilton, S D Ly, T Artem'yeva, O V Strong, P Partridge, T A Producer: 20000425 In: The Journal of cell biology vol. 148 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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