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1
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
Lupski JR;Reid JG;Gonzaga-Jauregui C;Rio Deiros D;Chen DC;Nazareth L;Bainbridge M;Dinh H;Jing C;Whee...
2010 The New England journal of medicine 259 views
2
Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity
Liu Y;Ramot Y;Torrelo A;Paller AS;Si N;Babay S;Kim PW;Sheikh A;Lee CC;Chen Y;Vera A;Zhang X;Goldbach...
2012 Arthritis and rheumatism 276 views
3
Aggressive Video Games are Not a Risk Factor for Future Aggression in Youth: A Longitudinal Study.
Ferguson, Christopher J;Wang, John C K;
2019 journal of youth and adolescence DOI: 10.1007/s10964-019-0... 247 views
4
Novel ALMS1 mutations in Chinese patients with Alström syndrome.
Liang, Xiaofang;Li, Hui;Li, Huajin;Xu, Fei;Dong, Fangtian;Sui, Ruifang;
2013 molecular vision 190 views
5
Nonsense-mediated mRNA Decay Deficiency Affects the Auxin Response and Shoot Regeneration in Arabidopsis.
Chiam, Nyet-Cheng;Fujimura, Tomoyo;Sano, Ryosuke;Akiyoshi, Nobuhiro;Hiroyama, Ryoko;Watanabe, Yuichi...
2019 Plant & cell physiology DOI: pcz154 285 views
6
Nature vs. nurture is nonsense: On the necessity of an integrated genetic, social, developmental, and personality psychology
Barlow, F.
2019 australian journal of psychology DOI: 10.1111/ajpy.12240 341 views
7
Polynomial Regressions and Nonsense Inference
Ventosa-Santaulària, Daniel;Rodríguez-Caballero, Carlos Vladimir;
2013 econometrics 225 views
8
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.
Nikopoulos, Konstantinos;Cisarova, Katarina;Quinodoz, Mathieu;Koskiniemi-Kuendig, Hanna;Miyake, Nori...
2019 Nature communications DOI: 10.1038/s41467-019-1... 195 views
9
CRISPR-Cas9-based mutagenesis frequently provokes on-target mRNA misregulation.
Tuladhar, Rubina;Yeu, Yunku;Tyler Piazza, John;Tan, Zhen;Rene Clemenceau, Jean;Wu, Xiaofeng;Barrett,...
2019 Nature communications DOI: 10.1038/s41467-019-1... 235 views
10
Tuberous Sclerosis Complex in Chinese patients: Phenotypic analysis and mutational screening of TSC1/TSC2 genes.
Lin, Shan;Zeng, Jia-Bin;Zhao, Gui-Xian;Yang, Zhen-Zhen;Huang, Hui-Ping;Lin, Min-Ting;Wu, Zhi-Ying;Wa...
2019 seizure DOI: S1059-1311(19)30108-... 210 views
11
The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion
Rocha, Nuno;Payne, Felicity;Huang-Doran, Isabel;Sleigh, Alison;Fawcett, Katherine;Adams, Claire;Stea...
2017 Scientific reports 175 views
12
Harold Pinter’s The Birthday Party (1958) and The Dumb Waiter (1960) or the intermingling of farce and menace
Rousseau, Aloysia;
2016 Études britanniques contemporaines 237 views
13
Reading Outcomes for Individuals With Histories of Suspected Childhood Apraxia of Speech.
Miller, Gabrielle J;Lewis, Barbara;Benchek, Penelope;Freebairn, Lisa;Tag, Jessica;Budge, Karlie;Iyen...
2019 American journal of speech-language pathology DOI: 10.1044/2019_AJSLP-1... 262 views
14
A single mutation in the 15S rRNA gene confers nonsense suppressor activity and interacts with mRF1 the release factor in yeast mitochondria
Gargouri, Ali;Macadré, Catherine;Lazowska, Jaga;
2015 microbial cell 213 views
15
The identification of novel mutations in PLCZ1 responsible for human fertilization failure and a therapeutic intervention by artificial oocyte activation.
Mu, Jian;Zhang, Zhihua;Wu, Ling;Fu, Jing;Chen, Biaobang;Yan, Zheng;Li, Bin;Zhou, Zhou;Wang, Wenjing;...
2020 molecular human reproduction DOI: gaaa003 224 views
16
Novel Mutations Found in Individuals with Adult-Onset Pompe Disease.
Aung-Htut, May T;Ham, Kristin A;Tchan, Michel C;Fletcher, Sue;Wilton, Steve D;
2020 genes DOI: E135 150 views
17
A comprehensive analysis of the angiogenesis-related genes in glioblastoma multiforme vs. brain lower grade glioma.
Biterge-Sut, Burcu;
2020 arquivos de neuro-psiquiatria DOI: S0004-282X2020000100... 241 views
18
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Lake, Nicole J;Webb, Bryn D;Stroud, David A;Richman, Tara R;Ruzzenente, Benedetta;Compton, Alison G;...
2017 American journal of human genetics DOI: S0002-9297(17)30283-... 169 views
19
Genome features of "Dark-fly", a Drosophila line reared long-term in a dark environment.
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2012 PloS one 132 views
20
Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2).
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2020 the journal of allergy and clinical immunology DOI: S0091-6749(20)30030-... 168 views

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National Center for Biotechnology Information NCBI NLM MEDLINE humans pubmed abstract nih national institutes of health national library of medicine research support adult female male N.I.H. Extramural aged middle aged codon 80 and over DNA