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	881.	CNTNAP1 mutations in an adult with Charcot Marie Tooth disease. [electronic resource] by Freed, Amanda S Weiss, Michael D Malouf, Emily A Hisama, Fuki M Producer: 20200113 In: Muscle & nerve vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	882.	Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations. [electronic resource] by Genet, S Cranston, T Middleton-Price, H R Producer: 20010308 In: Journal of inherited metabolic disease vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	883.	The double lives of shuttling mRNA binding proteins. [electronic resource] by Shyu, A B Wilkinson, M F Producer: 20000914 In: Cell vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	884.	The molecular basis of inherited afibrinogenaemia. [electronic resource] by Neerman-Arbez, M Producer: 20020122 In: Thrombosis and haemostasis vol. 86 Availability: No items available. Save to lists Add to cart (remove)
	885.	The cycle of nonsense. [electronic resource] by Wilkinson, Miles F Producer: 20040105 In: Molecular cell vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	886.	Gene symbol: RYR1. Disease: malignant hyperthermia. [electronic resource] by Dekomien, G Gencik, M Gencikova, A Klenk, Y Epplen, J T Producer: 20060321 In: Human genetics vol. 118 Availability: No items available. Save to lists Add to cart (remove)
	887.	Gene symbol: HFE2a (HJV). Disease: juvenile hemochromatosis. [electronic resource] by Klomp, C Abbes, A P Engel, H Producer: 20060321 In: Human genetics vol. 118 Availability: No items available. Save to lists Add to cart (remove)
	888.	Gene symbol: STK11. Disease: Peutz-Jeghers syndrome. [electronic resource] by Schumacher, Valerie Vogel, Tilman Leube, Barbara Driemel, Christiane Goecke, Timm Moeslein, Gabriela Royer-Pokora, Brigitte Producer: 20050712 In: Human genetics vol. 116 Availability: No items available. Save to lists Add to cart (remove)
	889.	Hereditary hemorrhagic telangiectasia is caused by the Q490X mutation of the ACVRL1 gene in a large Arab family: support of homozygous lethality. [electronic resource] by El-Harith, El-Harith A Kühnau, Wolfgang Schmidtke, Jörg Gadzicki, Dorothea Ahmed, Mirghani Krawczak, Michael Stuhrmann, Manfred Producer: 20060928 In: European journal of medical genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	890.	Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl. [electronic resource] by Oyama, Chikako Takahashi, Tsutomu Matsumori, Mika Shoji, Yutaka Tajima, Gou Sakura, Nobuo Hasegawa, Yuki Yamaguchi, Seiji Kakinuma, Hiroaki Takada, Goro Producer: 20070606 In: Pediatrics international : official journal of the Japan Pediatric Society vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	891.	Novel human pathological mutations. Gene symbol: LMNA. Disease: cardiomyopathy, dilated with conduction defects. [electronic resource] by Arbustini, Eloisa Pilotto, Andrea Grasso, Maurizia Marziliano, Nicola Serio, Alessandra Gambarin, Fabiana Pasotti, Michele Serafini, Elena Cassini, Pamela Digiorgio, Barbara Producer: 20090414 In: Human genetics vol. 125 Availability: No items available. Save to lists Add to cart (remove)
	892.	Detection of novel LAMA3 mutation in Herlitz junctional epidermolysis bullosa in a Jordanian family. [electronic resource] by Badran, Eman F Battah, Hamdi A Akl, Kamal F Khalil, Raida W Al Amori, Iyad Producer: 20140425 In: The Australasian journal of dermatology vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	893.	Three-dimensional ultrasound prenatal diagnosis of congenital ichthyosis: contribution of molecular biology. [electronic resource] by Tourette, Claire Tron, Elodie Mallet, Stephanie Levy-Mozziconacci, Annie Bonnefont, Jean-Paul D'Ercole, Claude Hovnanian, Alain Bretelle, Florence Producer: 20120911 In: Prenatal diagnosis vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	894.	Rescue of wild-type E-cadherin expression from nonsense-mutated cancer cells by a suppressor-tRNA. [electronic resource] by Bordeira-Carriço, Renata Ferreira, Daniel Mateus, Denisa D Pinheiro, Hugo Pêgo, Ana Paula Santos, Manuel A S Oliveira, Carla Producer: 20150413 In: European journal of human genetics : EJHG vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	895.	[Using exon combined target region capture sequencing chip to detect the disease-causing genes of retinitis pigmentosa]. [electronic resource] by Rong, Weining Chen, Xuejuan Li, Huiping Liu, Yani Sheng, Xunlun Producer: 20150516 In: [Zhonghua yan ke za zhi] Chinese journal of ophthalmology vol. 50 Availability: No items available. Save to lists Add to cart (remove)
	896.	Isolation of suppressors of the temperature-sensitive growth caused by a nonsense mutation in gene 1 of Bacillus subtilis phage ø29 using hydroxylamine. [electronic resource] by Tone, Takahiro Kinoshita, Motoko Hanagata, Aya Takeuchi, Ari Makino, Osamu Producer: 20160414 In: The Journal of general and applied microbiology vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	897.	Predicting alternative splicing. [electronic resource] by Barash, Yoseph Garcia, Jorge Vaquero Producer: 20141015 In: Methods in molecular biology (Clifton, N.J.) vol. 1126 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	898.	Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience. [electronic resource] by Ardıçlı, Didem Haliloğlu, Goknur Alikaşifoğlu, Mehmet Topaloğlu, Haluk Producer: 20191230 In: Neuropediatrics vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	899.	Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability. [electronic resource] by McSherry, Megan Masih, Katherine E Elcioglu, Nursel H Celik, Pelin Balci, Ozge Cengiz, Filiz Basak Nunez, Daniella Sineni, Claire J Seyhan, Serhat Kocaoglu, Defne Guo, Shengru Duman, Duygu Bademci, Guney Tekin, Mustafa Producer: 20190508 In: PloS one vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	900.	Whole Exome Sequencing Revealed a Novel Nonsense Variant in the GNRHR Gene Causing Normosmic Hypogonadotropic Hypogonadism in a Pakistani Family. [electronic resource] by Hussain, Hafiz Muhammad Jafar Murtaza, Ghulam Jiang, Xiaohua Khan, Ranjha Khan, Manan Kakakhel, Mian Basit Shah Khan, Teka Wahab, Fazal Zhang, Huan Zhang, Yuanwei Khan, Muhammad Bilal Ahmed, Parvez Ma, Hui Xu, Zhipeng Producer: 20191125 In: Hormone research in paediatrics vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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