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

Severe Congenital Thrombocytopenia Characterized by Decreased Platelet Sialylation and Moderate Complement Activation Caused by Novel Compound Heterozygous Variants in GNE

严重先天性血小板减少症,特征为血小板唾液酸化降低和中度补体活化,由 GNE 中的新型复合杂合变异引起

Karolina I Smolag, Marcus Fager Ferrari, Eva Zetterberg, Eva Leinoe, Torben Ek, Anna M Blom, Maria Rossing, Myriam Martin

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis

GoldVariants,一个用于分享在出血、血栓和血小板疾病中检测到的罕见基因变异的资源:来自ISTH SSC血栓和止血基因组学小组委员会的通讯

Megy, Karyn; Downes, Kate; Morel-Kopp, Marie-Christine; Bastida, José M; Brooks, Shannon; Bury, Loredana; Leinoe, Eva; Gomez, Keith; Morgan, Neil V; Othman, Maha; Ouwehand, Willem H; Perez Botero, Juliana; Rivera, José; Schulze, Harald; Trégouët, David-Alexandre; Freson, Kathleen

Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen-related genes

疑似患有遗传性出血性疾病且携带胶原相关基因种系变异的患者,其胶原重塑和血浆抗坏血酸水平的变化

Fager Ferrari, Marcus; Zetterberg, Eva; Rossing, Maria; Manon-Jensen, Tina; Pehrsson, Martin; Karsdal, Morten A; Lykkesfeldt, Jens; Leinoe, Eva

Clinical management, ethics and informed consent related to multi-gene panel-based high throughput sequencing testing for platelet disorders: Communication from the SSC of the ISTH

关于基于多基因panel的高通量测序检测在血小板疾病诊断中的临床管理、伦理和知情同意:国际血栓与止血学会(ISTH)科学指导委员会(SSC)通报

Downes, Kate; Borry, Pascal; Ericson, Katrin; Gomez, Keith; Greinacher, Andreas; Lambert, Michele; Leinoe, Eva; Noris, Patrizia; Van Geet, Chris; Freson, Kathleen

What the neighbors say

邻居们怎么说

Megy, Karyn; Downes, Kate; Morel-Kopp, Marie-Christine; Bastida, José M; Brooks, Shannon; Bury, Loredana; Leinoe, Eva; Gomez, Keith; Morgan, Neil V; Othman, Maha; Ouwehand, Willem H; Botero, Juliana Perez; Rivera, José; Schulze, Harald; Trégouët, David-Alexandre; Freson, Kathleen