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

Unresolved questions regarding human hereditary deafness

关于人类遗传性耳聋的未解之谜

Rehman, A U; Friedman, T B; Griffith, A J

Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.

人类TMHS基因突变会导致隐性遗传的非综合征性听力损失

Shabbir M I, Ahmed Z M, Khan S Y, Riazuddin Saima, Waryah A M, Khan S N, Camps R D, Ghosh M, Kabra M, Belyantseva I A, Friedman T B, Riazuddin Sheikh

Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III

阿什肯纳兹犹太人中患有第三型 Usher 综合征的遗传同质性和表型变异性

Ness, S L; Ben-Yosef, T; Bar-Lev, A; Madeo, A C; Brewer, C C; Avraham, K B; Kornreich, R; Desnick, R J; Willner, J P; Friedman, T B; Griffith, A J

Myosin XVA expression in the pituitary and in other neuroendocrine tissues and tumors

垂体及其他神经内分泌组织和肿瘤中肌球蛋白XVA的表达

Lloyd, R V; Vidal, S; Jin, L; Zhang, S; Kovacs, K; Horvath, E; Scheithauer, B W; Boger, E T; Fridell, R A; Friedman, T B

Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2

基因定位将DFNB3基因精确定位到17p11.2,提示DFNB3存在多个等位基因,并证实其与小鼠模型shaker-2具有同源性。

Liang, Y; Wang, A; Probst, F J; Arhya, I N; Barber, T D; Chen, K S; Deshmukh, D; Dolan, D F; Hinnant, J T; Carter, L E; Jain, P K; Lalwani, A K; Li, X C; Lupski, J R; Moeljopawiro, S; Morell, R; Negrini, C; Wilcox, E R; Winata, S; Camper, S A; Friedman, T B

Mouse and hamster mutants as models for Waardenburg syndromes in humans

小鼠和仓鼠突变体作为人类瓦尔登堡综合征的模型

Asher, J H Jr; Friedman, T B

Molecular characterization of the Drosophila melanogaster urate oxidase gene, an ecdysone-repressible gene expressed only in the malpighian tubules

果蝇尿酸氧化酶基因的分子特征,该基因是一种蜕皮激素可抑制基因,仅在马氏管中表达

Wallrath, L L; Burnett, J B; Friedman, T B