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Lídia Feliubadaló

Catalan Institute of Oncology
H指数:31
被引数:3,948

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From Rare to Common: Genetic Insights into TLR7 Variants in a Multicentric Spanish Study on COVID-19 Severity

从罕见到常见:一项关于COVID-19严重程度的西班牙多中心研究对TLR7变异体的遗传学见解

2025-05-270
OAAI
A randomized study of 2 risk assessment models for individualized breast cancer risk estimation

一项关于个体化乳腺癌风险评估的两种风险评估模型随机研究

2025-04-010
PRE
Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model (vol 34, pg 205, 2025)

将替代多基因风险评分纳入BOADICEA乳腺癌风险预测模型 (第34卷,205页,2025)

2025-01-090
OAAI
SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population
2024-07-041
OAAI
A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis
2024-01-013
OAAI
The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination

BRCA2 R2645G变体增加DNA结合并诱导超重组

2023-12-231
OAAI
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
2023-07-1311
OAAI
Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model

将替代多基因风险评分纳入BOADICEA乳腺癌风险预测模型

2023-01-1313
OAAI
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

拷贝数变异可作为BRCA1/BRCA2致病变异携带者乳腺癌风险的调节剂

2022-10-067
OAAI
The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

基于313变异的多基因风险评分对具有杂合BRCA1或BRCA2致病变异的欧洲血统女性对侧乳腺癌风险预测的预测能力

2021-09-0120
OAAI
Improving Genetic Testing in Hereditary Cancer by RNA Analysis Tools to Prioritize Splicing Studies and Challenges in Applying American College of Medical Genetics and Genomics Guidelines

通过RNA分析工具改善遗传性癌症的基因检测,以优先考虑剪接研究和应用美国医学遗传学和基因组学指南的挑战

2020-12-0111
OAAI
ERCC3, a new ovarian cancer susceptibility gene?

ERCC3,一个新的卵巢癌易感基因?

2020-12-0112
PREAI