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	3041.	The effect of α-actinin-3 deficiency on muscle aging. [electronic resource] by Seto, Jane T Chan, Stephen Turner, Nigel MacArthur, Daniel G Raftery, Joanna M Berman, Yemima D Quinlan, Kate G R Cooney, Gregory J Head, Stewart Yang, Nan North, Kathryn N Producer: 20110809 In: Experimental gerontology vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3042.	Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. [electronic resource] by Walsh, Tom Shahin, Hashem Elkan-Miller, Tal Lee, Ming K Thornton, Anne M Roeb, Wendy Abu Rayyan, Amal Loulus, Suheir Avraham, Karen B King, Mary-Claire Kanaan, Moien Producer: 20100728 In: American journal of human genetics vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3043.	Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations. [electronic resource] by Brady, Paul D Van Houdt, Jeroen Callewaert, Bert Deprest, Jan Devriendt, Koenraad Vermeesch, Joris R Producer: 20150206 In: European journal of medical genetics vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3044.	Oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells. [electronic resource] by Surapornsawasd, Thunyaporn Ogawa, Takuya Tsuji, Michiko Moriyama, Keiji Producer: 20150713 In: Journal of human genetics vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3045.	A premature stop codon in the ADAMTS2 gene is likely to be responsible for dermatosparaxis in Dorper sheep. [electronic resource] by Zhou, H Hickford, J G H Fang, Q Producer: 20121109 In: Animal genetics vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3046.	Functional characterization of Upf1 targets in Schizosaccharomyces pombe. [electronic resource] by Matia-González, Ana M Hasan, Ayesha Moe, Gøril H Mata, Juan Rodríguez-Gabriel, Miguel A Producer: 20140226 In: RNA biology vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3047.	Characterization of Chlamydia trachomatis plasmid-encoded open reading frames. [electronic resource] by Gong, Siqi Yang, Zhangsheng Lei, Lei Shen, Li Zhong, Guangming Producer: 20131104 In: Journal of bacteriology vol. 195 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3048.	Gentamicin B1 is a minor gentamicin component with major nonsense mutation suppression activity. [electronic resource] by Baradaran-Heravi, Alireza Niesser, Jürgen Balgi, Aruna D Choi, Kunho Zimmerman, Carla South, Andrew P Anderson, Hilary J Strynadka, Natalie C Bally, Marcel B Roberge, Michel Producer: 20180709 In: Proceedings of the National Academy of Sciences of the United States of America vol. 114 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3049.	Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome. [electronic resource] by Salpietro, Vincenzo Lin, Weichun Delle Vedove, Andrea Storbeck, Markus Liu, Yun Efthymiou, Stephanie Manole, Andreea Wiethoff, Sarah Ye, Qiaohong Saggar, Anand McElreavey, Kenneth Krishnakumar, Shyam S Pitt, Matthew Bello, Oscar D Rothman, James E Basel-Vanagaite, Lina Hubshman, Monika Weisz Aharoni, Sharon Manzur, Adnan Y Wirth, Brunhilde Houlden, Henry Producer: 20170719 In: Annals of neurology vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3050.	Congenital hypofibrinogenemia associated with novel homozygous fibrinogen Aα and heterozygous Bβ chain mutations. [electronic resource] by Castaman, Giancarlo Rimoldi, Valeria Giacomelli, Sofia H Duga, Stefano Producer: 20160405 In: Thrombosis research vol. 136 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3051.	Flocculation-Related Gene Identification by Whole-Genome Sequencing of Thauera aminoaromatica MZ1T Floc-Defective Mutants. [electronic resource] by Prombutara, P Allen, M S Producer: 20161213 In: Applied and environmental microbiology vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3052.	Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease. [electronic resource] by Garcia-Consuegra, Ines Blázquez, Alberto Rubio, Juan Carlos Arenas, Joaquín Ballester-Lopez, Alfonsina González-Quintana, Adrián Andreu, Antoni L Pinós, Tomàs Coll-Cantí, Jaume Lucia, Alejandro Nogales-Gadea, Gisela Martín, Miguel A Producer: 20170915 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3053.	The Chromosome-Encoded Hypothetical Protein TC0668 Is an Upper Genital Tract Pathogenicity Factor of Chlamydia muridarum. [electronic resource] by Conrad, Turner Allen Gong, Siqi Yang, Zhangsheng Matulich, Patrick Keck, Jonathon Beltrami, Noah Chen, Chaoqun Zhou, Zhou Dai, Jin Zhong, Guangming Producer: 20160602 In: Infection and immunity vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3054.	Cerebral venous sinus thrombosis in the patient with multiple sclerosis associated with congenital antithrombin deficiency. [electronic resource] by Kanaya, Yuhei Takamatsu, Kazuhiro Shimoe, Yutaka Niimi, Hideki Kitajima, Isao Kuriyama, Masaru Producer: 20170323 In: Rinsho shinkeigaku = Clinical neurology vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3055.	Deep intronic GPR143 mutation in a Japanese family with ocular albinism. [electronic resource] by Naruto, Takuya Okamoto, Nobuhiko Masuda, Kiyoshi Endo, Takao Hatsukawa, Yoshikazu Kohmoto, Tomohiro Imoto, Issei Producer: 20160531 In: Scientific reports vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3056.	Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study. [electronic resource] by Caria, Filomena Cescon, Matilde Gualandi, Francesca Pichiecchio, Anna Rossi, Rachele Rimessi, Paola Cotti Piccinelli, Stefano Gallo Cassarino, Serena Gregorio, Ilaria Galvagni, Anna Ferlini, Alessandra Padovani, Alessandro Bonaldo, Paolo Filosto, Massimiliano Producer: 20200824 In: Neuromuscular disorders : NMD vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3057.	The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p. [electronic resource] by Straniero, Letizia Rimoldi, Valeria Samarani, Maura Goldwurm, Stefano Di Fonzo, Alessio Krüger, Rejko Deleidi, Michela Aureli, Massimo Soldà, Giulia Duga, Stefano Asselta, Rosanna Producer: 20190722 In: Scientific reports vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3058.	Early onset epileptic encephalopathy with a novel GABRB3 mutation treated effectively with clonazepam: A case report. [electronic resource] by Zhang, Yi Lian, Yajun Xie, Nanchang Producer: 20180212 In: Medicine vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3059.	A 12.3-kb Duplication Within the [electronic resource] by Lehner, Stefanie Ekhlasi-Hundrieser, Mahnaz Detering, Carsten Allerkamp, Hanna Pfarrer, Christiane von Depka Prondzinski, Mario Producer: 20181011 In: G3 (Bethesda, Md.) vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3060.	Association of a de novo nonsense mutation of the TRIM8 gene with childhood-onset focal segmental glomerulosclerosis. [electronic resource] by Warren, Mikako Takeda, Moe Partikian, Arthur Opas, Lawrence Fine, Richard Yano, Shoji Producer: 20210504 In: Pediatric nephrology (Berlin, Germany) vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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