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	681.	Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel. [electronic resource] by Harmer, Stephen C Mohal, Jagdeep S Kemp, Duncan Tinker, Andrew Producer: 20120608 In: The Biochemical journal vol. 443 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	682.	A novel homozygous Q334X mutation in the HSD3B2 gene causing classic 3β-hydroxysteroid dehydrogenase deficiency: an unexpected diagnosis after a positive newborn screen for 21-hydroxylase deficiency. [electronic resource] by Jeandron, Debra D Sahakitrungruang, Taninee Producer: 20121105 In: Hormone research in paediatrics vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	683.	A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family. [electronic resource] by Yang, S X Yin, J H Lin, Z M Wang, H J Ren, Y L Zhang, J Li, R Y Yang, Y Producer: 20140925 In: Clinical and experimental dermatology vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	684.	[Duchenne muscular dystrophy]. [electronic resource] by Meißner, Thomas Producer: 20151214 In: MMW Fortschritte der Medizin vol. 157 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	685.	Pachydermoperiostosis genetic screening in Lebanese families uncovers a novel SLCO2A1mutation. [electronic resource] by Saadeh, D Kurban, M Ghosn, S Btadini, W Nemer, G Arayssi, T Uthman, I Badra, R Farra, C Producer: 20161014 In: Journal of the European Academy of Dermatology and Venereology : JEADV vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	686.	Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation. [electronic resource] by Valaperta, Rea Rizzo, Vittoria Lombardi, Fortunata Verdelli, Chiara Piccoli, Marco Ghiroldi, Andrea Creo, Pasquale Colombo, Alessio Valisi, Massimiliano Margiotta, Elisabetta Panella, Rossella Costa, Elena Producer: 20150330 In: BMC nephrology vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	687.	Comparison of DMRT3 genotypes among American Saddlebred horses with reference to gait. [electronic resource] by Regatieri, I C Eberth, J E Sarver, F Lear, T L Bailey, E Producer: 20161230 In: Animal genetics vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	688.	A novel homozygous nonsense mutation in NEFL causes autosomal recessive Charcot-Marie-Tooth disease. [electronic resource] by Fu, Jun Yuan, Yun Producer: 20191014 In: Neuromuscular disorders : NMD vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	689.	Autosomal recessive agammaglobulinemia due to defect in μ heavy chain caused by a novel mutation in the IGHM gene. [electronic resource] by Silva, P Justicia, A Regueiro, A Fariña, S Couselo, J M Loidi, L Producer: 20180207 In: Genes and immunity vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	690.	Congenital hydrocephalus in a Belgian draft horse associated with a nonsense mutation in B3GALNT2. [electronic resource] by Kolb, David Scott Klein, Claudia Producer: 20200623 In: The Canadian veterinary journal = La revue veterinaire canadienne vol. 60 Availability: No items available. Save to lists Add to cart (remove)
	691.	Nonsense variants in STAG2 result in distinct sex-dependent phenotypes. [electronic resource] by Aoi, Hiromi Lei, Ming Mizuguchi, Takeshi Nishioka, Nobuko Goto, Tomohide Miyama, Sahoko Suzuki, Toshifumi Iwama, Kazuhiro Uchiyama, Yuri Mitsuhashi, Satomi Itakura, Atsuo Takeda, Satoru Matsumoto, Naomichi Producer: 20190417 In: Journal of human genetics vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	692.	A [electronic resource] by Li, Ning Wang, Zhang-Sheng Wang, Xin-Hua Xu, Ying-Jia Qiao, Qi Li, Xiu-Mei Di, Ruo-Min Guo, Xiao-Juan Li, Ruo-Gu Zhang, Min Qiu, Xing-Biao Yang, Yi-Qing Producer: 20190226 In: International journal of medical sciences vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	693.	Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta. [electronic resource] by Smith, C E L Poulter, J A Brookes, S J Murillo, G Silva, S Brown, C J Patel, A Hussain, H Kirkham, J Inglehearn, C F Mighell, A J Producer: 20200714 In: Journal of dental research vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	694.	Clinical and ultrastructural findings in an ataxic variant of Kufor-Rakeb syndrome. [electronic resource] by Pietrzak, Anna Badura-Stronka, Magdalena Kangas-Kontio, Tiia Felczak, Paulina Kozubski, Wojciech Latos-Bielenska, Anna Wierzba-Bobrowicz, Teresa Florczak-Wyspianska, Jolanta Producer: 20200224 In: Folia neuropathologica vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	695.	Homozygous and heterozygous PINK1 mutations: considerations for diagnosis and care of Parkinson's disease patients. [electronic resource] by Zadikoff, Cindy Rogaeva, Ekaterina Djarmati, Ana Sato, Christine Salehi-Rad, Shabnam St George-Hyslop, Peter Klein, Christine Lang, Anthony E Producer: 20061114 In: Movement disorders : official journal of the Movement Disorder Society vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	696.	Atypical manifestation of neurofibromatosis type 2 in a boy. [electronic resource] by Bosch, M M Mironov, A Killer, H E Producer: 20051017 In: Eye (London, England) vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	697.	Nonsense-mediated decay enables intron gain in Drosophila. [electronic resource] by Farlow, Ashley Meduri, Eshwar Dolezal, Marlies Hua, Liushuai Schlötterer, Christian Producer: 20100312 In: PLoS genetics vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	698.	Recombination rates may affect the ratio of X to autosomal noncoding polymorphism in African populations of Drosophila melanogaster. [electronic resource] by Vicoso, Beatriz Charlesworth, Brian Producer: 20090715 In: Genetics vol. 181 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	699.	Gene symbol: APC. Disease: Adenomatous polyposis coli. [electronic resource] by Lopez-Kostner, Francisco Producer: 20081024 In: Human genetics vol. 124 Availability: No items available. Save to lists Add to cart (remove)
	700.	Uneventful coronary artery bypass surgery without prophylactic replacement therapy in a patient with a novel heterozygous FVII gene deletion. [electronic resource] by Gallinaro, L Casonato, A Vianello, F Fadin, M Cella, G Producer: 20100511 In: Haemophilia : the official journal of the World Federation of Hemophilia vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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