日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

The Usher Syndrome Type IIIB Histidyl-tRNA Synthetase Mutation Confers Temperature Sensitivity

Usher 综合征 IIIB 型组氨酰-tRNA 合成酶突变导致温度敏感性

Jamie A Abbott, Ethan Guth, Cindy Kim, Cathy Regan, Victoria M Siu, C Anthony Rupar, Borries Demeler, Christopher S Francklyn, Susan M Robey-Bond

Transfer RNA and human disease

转移RNA与人类疾病

Abbott, Jamie A; Francklyn, Christopher S; Robey-Bond, Susan M

Germ-line variant of human NTH1 DNA glycosylase induces genomic instability and cellular transformation

人类 NTH1 DNA 糖基化酶的生殖系变体诱导基因组不稳定性和细胞转化

Heather A Galick, Scott Kathe, Minmin Liu, Susan Robey-Bond, Dawit Kidane, Susan S Wallace, Joann B Sweasy

Genetic mapping and exome sequencing identify variants associated with five novel diseases.

基因定位和外显子组测序发现了与五种新疾病相关的变异

Puffenberger Erik G, Jinks Robert N, Sougnez Carrie, Cibulskis Kristian, Willert Rebecca A, Achilly Nathan P, Cassidy Ryan P, Fiorentini Christopher J, Heiken Kory F, Lawrence Johnny J, Mahoney Molly H, Miller Christopher J, Nair Devika T, Politi Kristin A, Worcester Kimberly N, Setton Roni A, Dipiazza Rosa, Sherman Eric A, Eastman James T, Francklyn Christopher, Robey-Bond Susan, Rider Nicholas L, Gabriel Stacey, Morton D Holmes, Strauss Kevin A