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1
Extensive identification and analysis of conserved small ORFs in animals
Mackowiak SD;Zauber H;Bielow C;Thiel D;Kutz K;Calviello L;Mastrobuoni G;Rajewsky N;Kempa S;Selbach M...
2015 Genome biology 450 views
2
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 280 views
3
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 294 views
4
A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs
Yngvadottir B;Xue Y;Searle S;Hunt S;Delgado M;Morrison J;Whittaker P;Deloukas P;Tyler-Smith C;;
2009 American journal of human genetics 240 views

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