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	1201.	Atrichia with papular lesions in a chinese family caused by novel compound heterozygous mutations and literature review. [electronic resource] by Wang, Shuang Tu, Chen Feng, Yiguo Wang, Xiaopeng Zhang, Dingwei Xiao, Shengxiang Producer: 20140128 In: Dermatology (Basel, Switzerland) vol. 226 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1202.	Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene. [electronic resource] by Castro-Gago, Manuel Dacruz-Alvarez, David Pintos-Martínez, Elena Beiras-Iglesias, Andrés Arenas, Joaquín Martín, Miguel Ángel Martínez-Azorín, Francisco Producer: 20161005 In: Brain & development vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1203.	ITK Deficiency: How can EBV be Treated Before Lymphoma? [electronic resource] by Cipe, Funda Erol Aydogmus, Cigdem Serwas, Nina Kathrin Tuğcu, Deniz Demirkaya, Metin Biçici, Ferhan Akıcı Hocaoglu, Arzu Babayigit Doğu, Figen Boztuğ, Kaan Producer: 20160208 In: Pediatric blood & cancer vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1204.	5-azacytidine inhibits nonsense-mediated decay in a MYC-dependent fashion. [electronic resource] by Bhuvanagiri, Madhuri Lewis, Joe Putzker, Kerstin Becker, Jonas P Leicht, Stefan Krijgsveld, Jeroen Batra, Richa Turnwald, Brad Jovanovic, Bogdan Hauer, Christian Sieber, Jana Hentze, Matthias W Kulozik, Andreas E Producer: 20150721 In: EMBO molecular medicine vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1205.	Expression profile and gene age jointly shaped the genome-wide distribution of premature termination codons in a Drosophila melanogaster population. [electronic resource] by Yang, Haiwang He, Bin Z Ma, Huijing Tsaur, Shun-Chern Ma, Chenyu Wu, Ying Ting, Chau-Ti Zhang, Yong E Producer: 20150818 In: Molecular biology and evolution vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1206.	Transcript-specific characteristics determine the contribution of endo- and exonucleolytic decay pathways during the degradation of nonsense-mediated decay substrates. [electronic resource] by Ottens, Franziska Boehm, Volker Sibley, Christopher R Ule, Jernej Gehring, Niels H Producer: 20170922 In: RNA (New York, N.Y.) vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1207.	A Severe Case of Congenital Thrombotic Thrombocytopenia Purpura Resulting From Compound Heterozygosity Involving a Novel ADAMTS13 Pathogenic Variant. [electronic resource] by Conboy, Erin Partain, Paige I Warad, Deepti Kluge, Michelle L Arndt, Carola Chen, Dong Rodriguez, Vilmarie Producer: 20180112 In: Journal of pediatric hematology/oncology vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1208.	Identification of a compound heterozygous mutation of ABCC2 in a patient with hyperbilirubinemia. [electronic resource] by Xiang, Rong Li, Jing-Jing Fan, Liang-Liang Jin, Jie-Yuan Xia, Kun Wang, Fang Producer: 20180510 In: Molecular medicine reports vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1209.	Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis. [electronic resource] by Shukla, Anju Das Bhowmik, Aneek Hebbar, Malavika Rajagopal, Kadavigere V Girisha, Katta M Gupta, Neerja Dalal, Ashwin Producer: 20180726 In: Journal of human genetics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1210.	Identification of two novel pathogenic compound heterozygous MYO7A mutations in Usher syndrome by whole exome sequencing. [electronic resource] by Jia, Ying Li, Xiaoge Yang, Dong Xu, Yi Guo, Ying Li, Xin Producer: 20180116 In: International journal of pediatric otorhinolaryngology vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1211.	Whole-exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limb. [electronic resource] by Umair, Muhammad Bilal, Muhammad Ali, Raja H Alhaddad, Bader Ahmad, Farooq Haack, Tobias B Alfadhel, Majid Ansar, Muhammad Meitinger, Thomas Ahmad, Wasim Producer: 20200812 In: Clinical genetics vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1212.	In eubacteria, unlike eukaryotes, there is no evidence for selection favouring fail-safe 3' additional stop codons. [electronic resource] by Ho, Alexander T Hurst, Laurence D Producer: 20200220 In: PLoS genetics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1213.	Variants in [electronic resource] by Yousaf, Maryam Azeem, Zahid Bilal, Muhammad Liaqat, Khurram Hussain, Shabir Ahmad, Farooq Ghous, Tahseen Ullah, Asmat Ahmad, Wasim Producer: 20200505 In: Genetic testing and molecular biomarkers vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1214.	A [electronic resource] by Hug, Petra Anderegg, Linda Dürig, Nicole Lepori, Vincent Jagannathan, Vidhya Spiess, Bernhard Richter, Marianne Leeb, Tosso Producer: 20191225 In: Genes vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1215.	Whole exome sequencing identified a novel nonsense INPP4A mutation in a family with intellectual disability. [electronic resource] by Banihashemi, Sara Tahmasebi-Birgani, Maryam Mohammadiasl, Javad Hajjari, Mohammadreza Producer: 20201231 In: European journal of medical genetics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1216.	A novel homozygous nonsense ZP1 variant causes human female infertility associated with empty follicle syndrome (EFS). [electronic resource] by Xu, Qianhua Zhu, Xiaoli Maqsood, Madiha Li, Wenqing Tong, Xianhong Kong, Shuai Wang, Fengsong Liu, Xiaoman Wei, Zhaolian Zhang, Zhiguo Zhu, Fuxi Cao, Yunxia Bao, Jianqiang Producer: 20210430 In: Molecular genetics & genomic medicine vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1217.	[Prionization of the Pichia methanolica SUP35 gene product in the yeast Saccharomyces cerevisiae]. [electronic resource] by Zadorskiĭ, S P Sopova, Iu V Inge-Vechtomov, S G Producer: 20010104 In: Genetika vol. 36 Availability: No items available. Save to lists Add to cart (remove)
	1218.	New insights into the formation of active nonsense-mediated decay complexes. [electronic resource] by Singh, Guramrit Lykke-Andersen, Jens Producer: 20031208 In: Trends in biochemical sciences vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1219.	Mutations in eukaryotic release factors 1 and 3 act as general nonsense suppressors in Drosophila. [electronic resource] by Chao, Anna T Dierick, Herman A Addy, Tracie M Bejsovec, Amy Producer: 20040709 In: Genetics vol. 165 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1220.	Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease. [electronic resource] by Bruno, Claudio Lanzillo, Roberta Biedi, Claudia Iadicicco, Lucia Minetti, Carlo Santoro, Lucio Producer: 20020806 In: Neuromuscular disorders : NMD vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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