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

The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation.

基因检测在准确诊断 X 连锁铁粒幼细胞性贫血中的作用:新的 ALAS2 突变和 X 染色体失活的影响

Jové-Solavera Daniel, Rámila Marta, Ferrer-Cortés Xènia, Olivella Mireia, Venturi Veronica, Morado Marta, Hernández-Rodríguez Ines, Khan Aneal, Pérez-Montero Santiago, Tornador Cristian, Germing Ulrich, Gattermann Norbert, Sanchez Mayka

Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III

RACGAP1基因突变导致常染色体隐性遗传性先天性红细胞生成障碍性贫血III型

Hernández, Gonzalo; Romero-Cortadellas, Lídia; Ferrer-Cortès, Xènia; Venturi, Veronica; Dessy-Rodriguez, Mercedes; Olivella, Mireia; Husami, Ammar; De Soto, Concepción Pérez; Morales-Camacho, Rosario M; Villegas, Ana; González-Fernández, Fernando-Ataulfo; Morado, Marta; Kalfa, Theodosia A; Quintana-Bustamante, Oscar; Pérez-Montero, Santiago; Tornador, Cristian; Segovia, Jose-Carlos; Sánchez, Mayka

Haemochromatosis patients' research priorities: Towards an improved quality of life

血色素沉着症患者的研究重点:提高生活质量

Romero-Cortadellas, Lídia; Venturi, Veronica; Martín-Sánchez, Juan Carlos; Toska, Ketil; Prince, Dianne; Butzeck, Barbara; Porto, Graça; Milman, Nils Thorm; Committee, Hi/Efaph Survey; Sánchez, Mayka

Human dyskerin binds to cytoplasmic H/ACA-box-containing transcripts affecting nuclear hormone receptor dependence

人类角蛋白异常与细胞质 H/ACA 盒转录本结合,影响核激素受体依赖性

Federico Zacchini, Giulia Venturi, Veronica De Sanctis, Roberto Bertorelli, Claudio Ceccarelli, Donatella Santini, Mario Taffurelli, Marianna Penzo, Davide Treré, Alberto Inga, Erik Dassi, Lorenzo Montanaro

New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis

HFE2 和 TFR2 基因的新突变导致非 HFE 相关遗传性血色素沉着症

Hernández, Gonzalo; Ferrer-Cortès, Xenia; Venturi, Veronica; Musri, Melina; Pilquil, Martin Floor; Torres, Pau Marc Muñoz; Rodríguez, Ines Hernandez; Mínguez, Maria Àngels Ruiz; Kelleher, Nicholas J; Pelucchi, Sara; Piperno, Alberto; Alberca, Esther Plensa; Ricós, Georgina Gener; Giró, Eloi Cañamero; Pérez-Montero, Santiago; Tornador, Cristian; Villà-Freixa, Jordi; Sánchez, Mayka

CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia

CoDysAn:一种用于提高先天性红细胞生成障碍贫血症患者认知度和诊断率的远程医疗工具

Tornador, Cristian; Sánchez-Prados, Edgar; Cadenas, Beatriz; Russo, Roberta; Venturi, Veronica; Andolfo, Immacolata; Hernández-Rodriguez, Ines; Iolascon, Achille; Sánchez, Mayka