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

HIRA, NKX2-5, and GATA4 Alterations versus Cardiac Malformations Related to 22q11.2 Deletion Syndrome

HIRA、NKX2-5 和 GATA4 改变与 22q11.2 缺失综合征相关的心脏畸形

Diniz, Bruna Lixinski; Deconte, Desirée; Böttcher, Ana Kalise; Mergener, Rafaela; Guaraná, Bruna Baierle; Malgarezi de Moraes, Natasha; Machado Rosa, Rafael Fabiano; Gazzola Zen, Paulo Ricardo

Autophagy suppression via SRC induction represents a therapeutic vulnerability for BAP1-mutant cancers.

通过 SRC 诱导抑制自噬是 BAP1 突变癌症的治疗弱点。

Vega-Rubin-de-Celis Silvia, Kristani Amanda, Kudla Matthias, Mergener Svenja, Corrochano-Ruiz Andrés, Larafa Safa, Montero-Vergara Jetsy, Ahle Laura-Marie, Will Rainer, Lever Mael, Grünwald Viktor, Hadaschik Boris, Jendrossek Verena, Bechrakis Nikolaos E, Peña-Llopis Samuel

Working from home and health complaints: on the difference between telework and informal overtime at home

在家办公与健康问题:远程办公与在家非正式加班的区别

Mergener, Alexandra; Stawarz, Nico; Rüger, Heiko; Laß, Inga

First report of hypoplastic left heart syndrome in 3p- syndrome and review of candidate genes

3p-综合征合并左心发育不全综合征的首例报告及候选基因综述

Böttcher, Ana Kalise; Siqueira, Monique Banik; Malgarezi, Natasha; Nunes, Marcela Rodrigues; Mergener, Rafaella; Kalil, Luisa Pigatto; Trevisan, Patrícia; Zen, Paulo Ricardo Gazzola

Genetic Analysis Strategy for Diagnosing Congenital Heart Disease

先天性心脏病诊断的基因分析策略

Malgarezi de Moraes, Natasha; Diniz, Bruna Lixinski; Böttcher, Ana Kalise; Nunes, Marcela Rodrigues; Mergener, Rafaella; Gazzola Zen, Paulo Ricardo

Turner syndrome and neuropsychological abnormalities: a review and case series

特纳综合征与神经心理异常:综述及病例系列

Guaraná, Bruna Baierle; Nunes, Marcela Rodrigues; Muniz, Victória Feitosa; Diniz, Bruna Lixinski; Nunes, Maurício Rouvel; Böttcher, Ana Kalise; Rosa, Rafael Fabiano Machado; Mergener, Rafaella; Zen, Paulo Ricardo Gazzola

invdup(8)(8q24.13q24.3)-A Complex Alteration and Its Clinical Consequences

invdup(8)(8q24.13q24.3)-复杂变异及其临床后果

Rafaella Mergener, Marcela Rodrigues Nunes, Ana Kalise Böttcher, Monique Banik Siqueira, Helena Froener Peruzzo, Milene Carvalho Merola, Mariluce Riegel, Paulo Ricardo Gazzola Zen

16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?

16p11.2 微复制综合征伴有池内液体增加:巧合还是表型延伸?

Lívia Polisseni Cotta Nascimento, Rafaella Mergener, Marcela Rodrigues Nunes, Victória Feitosa Muniz, Juliana Rossi Catao, Ana Kalise Böttcher da Silveira, Luiza Emy Dorfman, Carla Graziadio, Paulo Ricardo Gazzola Zen

A new perspective on immune evasion: escaping immune surveillance by inactivating tumor suppressors

免疫逃逸的新视角:通过灭活肿瘤抑制因子逃避免疫监视

Mergener, Svenja; Peña-Llopis, Samuel

Targeting DNA topoisomerases or checkpoint kinases results in an overload of chaperone systems, triggering aggregation of a metastable subproteome

靶向 DNA 拓扑异构酶或检查点激酶会导致分子伴侣系统超载,从而引发亚稳态亚蛋白质组的聚集

Wouter Huiting, Suzanne L Dekker #, Joris C J van der Lienden #, Rafaella Mergener, Maiara K Musskopf, Gabriel V Furtado, Emma Gerrits, David Coit, Mehrnoosh Oghbaie, Luciano H Di Stefano, Hein Schepers, Maria A W H van Waarde-Verhagen, Suzanne Couzijn, Lara Barazzuol, John LaCava, Harm H Kampinga,