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Valeria Tomati

istituto giannina gaslini
H指数:23
被引数:1,426

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Vanzacaftor-Tezacaftor as an alternative therapeutic resource for the ETI-Resistant L467F-F508del Allele: Ex vivo prediction and exploratory clinical assessment

Vanzacaftor-Tezacaftor作为ETI-Resistant L467F-F508del等位基因的替代治疗资源:离体预测和探索性临床评估

2026-06-040
PRE
Beyond Trikafta: new models to assess tissue dependent rescue of N1303K-CFTR

超越Trikafta:评估组织依赖性N1303K-CFTR挽救的新模型

2025-10-290
OAAI
Alternative splicing and residual function potentially expand the therapeutic landscape of the CFTRdele2ins182 variant

选择性剪接和残余功能可能扩展CFTRdele2ins182变异的治疗范围

2025-09-160
OA
In silico, in vitro and ex vivo characterization of cystic fibrosis transmembrane conductance regulator pathogenic variants localized in the fourth intracellular loop and their rescue by modulators

在体内外及细胞外对位于第四细胞内环的囊性纤维化跨膜电导调节因子致病性变异进行表征及其通过调节剂的修复

2025-08-200
OAAI
De novo variants in DENND5B cause a neurodevelopmental disorder
2024-03-012
OAAI
Rescue by elexacaf tor-tezacaf tor-ivacaf tor of the G1244E cystic fibrosis mutation's stability and gating defects are dependent on cell background

G1244E囊性纤维化突变的稳定性和门控缺陷依赖于细胞背景

2023-05-0116
PRE
Patient's dermal fibroblasts as disease markers for visceral myopathy
2023-05-012
OAAI