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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 329 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 332 views

3

Physical Association of Saccharomyces cerevisiae Polo-like Kinase Cdc5 with Chromosomal Cohesin Facilitates DNA Damage Response

Pakchuen S;Ishibashi M;Takakusagi E;Shirahige K;Sutani T;;

2016 The Journal of biological chemistry 309 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