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	5481.	Nur7 is a nonsense mutation in the mouse aspartoacylase gene that causes spongy degeneration of the CNS. [electronic resource] by Traka, Maria Wollmann, Robert L Cerda, Sonia R Dugas, Jason Barres, Ben A Popko, Brian Producer: 20081231 In: The Journal of neuroscience : the official journal of the Society for Neuroscience vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5482.	Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations. [electronic resource] by Schäfer, Annika Hofmann, Lars Gratchev, Alexei Laspe, Petra Schubert, Steffen Schürer, Anke Ohlenbusch, Andreas Tzvetkov, Mladen Hallermann, Christian Reichrath, Jörg Schön, Michael P Emmert, Steffen Producer: 20130627 In: Experimental dermatology vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5483.	Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. [electronic resource] by Meloni, Antonella Willcox, Nick Meager, Anthony Atzeni, Michela Wolff, Anette S B Husebye, Eystein S Furcas, Maria Rosatelli, Maria Cristina Cao, Antonio Congia, Mauro Producer: 20120611 In: The Journal of clinical endocrinology and metabolism vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5484.	[Human diseases and NOTCH receptors]. [electronic resource] by Le Caignec, Cédric Producer: 20110912 In: Medecine sciences : M/S vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5485.	Combined association of CCR2-V64I and MCP-1-2518A/G polymorphisms with generalised aggressive periodontitis in Chinese. [electronic resource] by Zhu, Xiao Ling Meng, Huan Xin Xu, Li Zhang, Li Chen, Zhi Bin Shi, Dong Feng, Xiang Hui Producer: 20110208 In: The Chinese journal of dental research vol. 13 Availability: No items available. Save to lists Add to cart (remove)
	5486.	Schizosaccharomyces pombe encodes a mutated AP endonuclease 1. [electronic resource] by Laerdahl, Jon K Korvald, Hanne Nilsen, Line Dahl-Michelsen, Kristin Rognes, Torbjørn Bjørås, Magnar Alseth, Ingrun Producer: 20110620 In: DNA repair vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5487.	Analysis of genetic polymorphism and biochemical characterization of a functionally decreased variant in prostacyclin synthase gene (CYP8A1) in humans. [electronic resource] by Cho, Sun-Ah Rohn-Glowacki, Katie Jo Jarrar, Yazun B Yi, Myeongjin Kim, Woo-Young Shin, Jae-Gook Lee, Su-Jun Producer: 20150622 In: Archives of biochemistry and biophysics vol. 569 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5488.	Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. [electronic resource] by Ben-Omran, Tawfeg Fahiminiya, Somayyeh Sorfazlian, Natalie Almuriekhi, Mariam Nawaz, Zafar Nadaf, Javad Khadija, Kitam Abu Zaineddin, Samiha Kamel, Hussein Majewski, Jacek Tropepe, Vincent Producer: 20160224 In: Journal of medical genetics vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5489.	Misdiagnosed CD19 deficiency leads to severe lung disease. [electronic resource] by Skendros, Panagiotis Rondeau, Sophie Chateil, Jean-Francois Bui, Stephanie Bocly, Veronique Moreau, Jean-Francois Theodorou, Ioannis Aladjidi, Nathalie Producer: 20150730 In: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5490.	TRα receptor mutations extend the spectrum of syndromes of reduced sensitivity to thyroid hormone. [electronic resource] by Vlaeminck-Guillem, Virginie Espiard, Stéphanie Flamant, Frédéric Wémeau, Jean-Louis Producer: 20160324 In: Presse medicale (Paris, France : 1983) vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5491.	DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. [electronic resource] by Xu, Wang-Yang Zhu, Houbao Shen, Yan Wan, Ying-Han Tu, Xiao-Die Wu, Wen-Ting Tang, Lingyun Zhang, Hong-Xin Lu, Shun-Yuan Jin, Xiao-Long Fei, Jian Wang, Zhu-Gang Producer: 20190624 In: Molecular and cellular biology vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5492.	Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth. [electronic resource] by Modi, Bhavi P Parikh, Hardik I Teves, Maria E Kulkarni, Rewa Liyu, Jiang Romero, Roberto York, Timothy P Strauss, Jerome F Producer: 20190523 In: BMC medical genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5493.	Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations. [electronic resource] by Vidal, F Farssac, E Altisent, C Puig, L Gallardo, D Producer: 20011204 In: Thrombosis and haemostasis vol. 85 Availability: No items available. Save to lists Add to cart (remove)
	5494.	Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria. [electronic resource] by Corrigall, A V Hift, R J Davids, L M Hancock, V Meissner, D Kirsch, R E Meissner, P N Producer: 20010726 In: Molecular genetics and metabolism vol. 73 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5495.	Requirement for both IL-12 and IFN-gamma signaling pathways in optimal IFN-gamma production by human T cells. [electronic resource] by Losana, Giuliana Rigamonti, Laura Borghi, Igor Assenzio, Barbara Ariotti, Silvia Jouanguy, Emmanuelle Altare, Frederic Forni, Guido Casanova, Jean-Laurent Novelli, Francesco Producer: 20020429 In: European journal of immunology vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5496.	The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. [electronic resource] by Gimenez-Roqueplo, A P Favier, J Rustin, P Mourad, J J Plouin, P F Corvol, P Rötig, A Jeunemaitre, X Producer: 20020110 In: American journal of human genetics vol. 69 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5497.	Evidence against a direct role for the Upf proteins in frameshifting or nonsense codon readthrough. [electronic resource] by Harger, Jason W Dinman, Jonathan D Producer: 20041130 In: RNA (New York, N.Y.) vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5498.	Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula. [electronic resource] by Bohlega, Saeed Al-Jishi, Adel Dobson-Stone, Carol Rampoldi, Luca Saha, Parthasarathi Murad, Hatem Kareem, Abid Roberts, George Monaco, Anthony P Producer: 20030728 In: Movement disorders : official journal of the Movement Disorder Society vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5499.	ITN1, a novel gene encoding an ankyrin-repeat protein that affects the ABA-mediated production of reactive oxygen species and is involved in salt-stress tolerance in Arabidopsis thaliana. [electronic resource] by Sakamoto, Hikaru Matsuda, Osamu Iba, Koh Producer: 20081114 In: The Plant journal : for cell and molecular biology vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5500.	Transdermal delivery of a readthrough-inducing drug: a new approach of gentamicin administration for the treatment of nonsense mutation-mediated disorders. [electronic resource] by Shiozuka, Masataka Wagatsuma, Akira Kawamoto, Tadafumi Sasaki, Hiroyuki Shimada, Kenichi Takahashi, Yoshikazu Nonomura, Yoshiaki Matsuda, Ryoichi Producer: 20100716 In: Journal of biochemistry vol. 147 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 5852 results.