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

RAD51 as a biomarker for homologous recombination deficiency in high-grade serous ovarian carcinoma: robustness and interobserver variability of the RAD51 test

RAD51作为高级别浆液性卵巢癌同源重组缺陷的生物标志物:RAD51检测的稳健性和观察者间变异性

Kramer, Claire Jh; Llop-Guevara, Alba; Yaniz-Galende, Elisa; Pellegrino, Benedetta; Ter Haar, Natalja T; Herencia-Ropero, Andrea; Campanini, Nicoletta; Musolino, Antonino; Bosse, Tjalling; Leary, Alexandra; Serra, Violeta; Vreeswijk, Maaike Pg

Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants

基于微基因的剪接分析和基于ACMG/AMP的56种ATM变体的初步分类

Bueno-Martínez, Elena; Sanoguera-Miralles, Lara; Valenzuela-Palomo, Alberto; Esteban-Sánchez, Ada; Lorca, Víctor; Llinares-Burguet, Inés; Allen, Jamie; García-Álvarez, Alicia; Pérez-Segura, Pedro; Durán, Mercedes; Easton, Douglas F; Devilee, Peter; Vreeswijk, Maaike Pg; de la Hoya, Miguel; Velasco-Sampedro, Eladio A

Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants

42种种系PALB2剪接位点变异体的剪接预测、微基因分析和ACMG-AMP临床分类

Valenzuela-Palomo, Alberto; Bueno-Martínez, Elena; Sanoguera-Miralles, Lara; Lorca, Víctor; Fraile-Bethencourt, Eugenia; Esteban-Sánchez, Ada; Gómez-Barrero, Susana; Carvalho, Sara; Allen, Jamie; García-Álvarez, Alicia; Pérez-Segura, Pedro; Dorling, Leila; Easton, Douglas F; Devilee, Peter; Vreeswijk, Maaike Pg; de la Hoya, Miguel; Velasco, Eladio A