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	1281.	Translational competence of ribosomes released from a premature termination codon is modulated by NMD factors. [electronic resource] by Ghosh, Shubhendu Ganesan, Robin Amrani, Nadia Jacobson, Allan Producer: 20100921 In: RNA (New York, N.Y.) vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1282.	Mutational Analysis of Exostosin 1 and 2 Genes in Multiple Osteochondroma. [electronic resource] by Malini, K Gudi, Narayan S Kutty, A V M Balakrishna, Sharath Producer: 20161215 In: Indian journal of pediatrics vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1283.	Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus. [electronic resource] by Yourshaw, Michael Solorzano-Vargas, R Sergio Pickett, Lindsay A Lindberg, Iris Wang, Jiafang Cortina, Galen Pawlikowska-Haddal, Anna Baron, Howard Venick, Robert S Nelson, Stanley F Martín, Martín G Producer: 20140718 In: Journal of pediatric gastroenterology and nutrition vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1284.	A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency. [electronic resource] by Barcia, G Barnerias, C Rio, M Siquier-Pernet, K Desguerre, I Colleaux, L Munnich, A Rotig, A Nabbout, R Producer: 20140716 In: European journal of medical genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1285.	Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI. [electronic resource] by Bartolomeo, Rosa Polishchuk, Elena V Volpi, Nicola Polishchuk, Roman S Auricchio, Alberto Producer: 20140114 In: Journal of inherited metabolic disease vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1286.	A novel de novo nonsense mutation in the TRPS1 gene in a Japanese patient with tricho-rhino-phalangeal syndrome type I. [electronic resource] by Farooq, Muhammad Fujikawa, Hiroki Fujimoto, Atsushi Kubo, Yoshiaki Ito, Masaaki Shimomura, Yutaka Producer: 20150415 In: International journal of dermatology vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1287.	A combination of nifedipine and octreotide treatment in an hyperinsulinemic hypoglycemic infant. [electronic resource] by Durmaz, Erdem Flanagan, Sarah E Parlak, Mesut Ellard, Sian Akcurin, Sema Bircan, Iffet Producer: 20150126 In: Journal of clinical research in pediatric endocrinology vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1288.	Trichothiodystrophy group A: a first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene. [electronic resource] by Moriwaki, Shinichi Saruwatari, Hiroshi Kanzaki, Tamotsu Kanekura, Takuro Minoshima, Shinsei Producer: 20150921 In: The Journal of dermatology vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1289.	Molecular characterization of cat factor XII gene and identification of a mutation causing factor XII deficiency in a domestic shorthair cat colony. [electronic resource] by Bender, D E Kloos, M T Pontius, J U Hinsdale, M E Bellinger, D A Producer: 20170413 In: Veterinary pathology vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1290.	Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype. [electronic resource] by Boczek, Nicole J Kruisselbrink, Teresa Cousin, Margot A Blackburn, Patrick R Klee, Eric W Gavrilova, Ralitza H Lanpher, Brendan C Producer: 20170508 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1291.	Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified dentified in Breast Cancer Patients from Balochistan. [electronic resource] by Baloch, Abdul Hameed Khosa, Ahmad Nawaz Bangulzai, Nasrullah Shuja, Jamila Naseeb, Hafiz Khush Jan, Mohammad Marghazani, Illahi Bakhsh Kakar, Masood-Ul-Haq Baloch, Dost Mohammad Cheema, Abdul Majeed Ahmad, Jamil Producer: 20170118 In: Asian Pacific journal of cancer prevention : APJCP vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1292.	Functional confirmation that the R1488* variant in SCN9A results in complete loss-of-function of Na [electronic resource] by He, Wen Young, Gareth T Zhang, Baohong Cox, Peter J Cho, Lily Ting-Yin John, Sally Paciga, Sara A Wood, Linda S Danziger, Nicolas Scollen, Serena Vangjeli, Ciara Producer: 20190415 In: BMC medical genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1293.	Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene. [electronic resource] by Wunderlich, Gilbert Brunn, Anna Daimagüler, Hülya-Sevcan Bozoglu, Tarik Fink, Gereon R Lehmann, Helmar C Weis, Joachim Cirak, Sebahattin Producer: 20181211 In: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology vol. 37 Availability: No items available. Save to lists Add to cart (remove)
	1294.	Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: a case report. [electronic resource] by Lu, Jingru Zhao, Xiangzhong Paiardini, Alessandro Lang, Yanhua Bottillo, Irene Shao, Leping Producer: 20190729 In: BMC nephrology vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1295.	A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia. [electronic resource] by Miryounesi, Mohammad Nikfar, Ali Changi-Ashtiani, Majid Shahrooei, Mohammad Dinmohammadi, Hossein Shahani, Tina Zarvandi, Samira Bahrami, Tahereh Momenilandi, Mana Rokni-Zadeh, Hassan Producer: 20210203 In: Annals of human genetics vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1296.	New insights into the interplay between the translation machinery and nonsense-mediated mRNA decay factors. [electronic resource] by Raimondeau, Etienne Bufton, Joshua C Schaffitzel, Christiane Producer: 20181024 In: Biochemical Society transactions vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1297.	UPF1 silenced cellular model systems for screening of read-through agents active on β [electronic resource] by Salvatori, Francesca Pappadà, Mariangela Breveglieri, Giulia D'Aversa, Elisabetta Finotti, Alessia Lampronti, Ilaria Gambari, Roberto Borgatti, Monica Producer: 20190710 In: BMC biotechnology vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1298.	Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review. [electronic resource] by Mizukami, Yukari Hayashi, Ryota Tsuruta, Daisuke Shimomura, Yutaka Sugawara, Koji Producer: 20180924 In: The Journal of dermatology vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1299.	Gentamicin induces [electronic resource] by Lincoln, Vadim Cogan, Jon Hou, Yingping Hirsch, Michaela Hao, Michelle Alexeev, Vitali De Luca, Michele De Rosa, Laura Bauer, Johann W Woodley, David T Chen, Mei Producer: 20180910 In: Proceedings of the National Academy of Sciences of the United States of America vol. 115 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1300.	Gene variants in four pedigrees with hereditary coagulation factor XI deficiency and one novel mutation identification. [electronic resource] by Lin, Fen Weng, Miao-Shan Wu, Jiao-Ren Fang, Sen-Hai Yang, Li-Ye Producer: 20200720 In: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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