文献库，生知库 | 链接生命科学的每一步

日期影响因子

Clinical management of bleeding manifestations in a family with the thrombomodulin C1611>A (p.Cys537Stop) mutation

对携带血栓调节蛋白 C1611>A (p.Cys537Stop) 突变的家族进行出血表现的临床管理

期刊:Research and Practice in Thrombosis and Haemostasis

影响因子:3.4

doi:10.1016/j.rpth.2025.102678

Pierre-Louis, Serge; Rabout, Johalene; Labrada, Octavio; Radouani, Fatima; Chonville, Emeline; Ferrey, Beatrice; Pierre-Louis, Olivier; Dargaud, Yesim

发表日期：2025

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Clinical, Phenotypic and Genotypic Characteristics of Von Willebrand Disease in Afro-Caribbeans: Results From a Study in Martinique Island, French West Indies

非洲裔加勒比人血管性血友病的临床、表型和基因型特征：来自法属西印度群岛马提尼克岛的一项研究结果

期刊:Haemophilia

doi:10.1111/hae.70003

Dubois, Marie-Daniéla; Pierre-Louis, Olivier Nicolas; Pierre-Louis, Serge; Boisseau, Pierre; Denis, Cécile V; Dupont, Annabelle; Goudemand, Jenny; Casari, Caterina; Jeanpierre, Emmanuelle; Zawadzki, Christophe; Ferrey, Béatrice; Rabout, Johalène; Fuseau, Pascal; Chonville, Emelyne; Michel, Franck; Yerro, Marie-Nadiège; Gruel, Yves; Christophe, Olivier; Lenting, Peter J; Janky, Eustase; Susen, Sophie; Neviere, Rémi

发表日期：2025

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Identification of von Willebrand factor D4 domain mutations in patients of Afro-Caribbean descent: In vitro characterization

非洲裔加勒比血统患者中血管性血友病因子 D4 结构域突变的鉴定：体外表征

期刊:Research and Practice in Thrombosis and Haemostasis

影响因子:3.4

doi:10.1002/rth2.12737

Marie-Daniéla Dubois, Ivan Peyron, Olivier-Nicolas Pierre-Louis, Serge Pierre-Louis, Johalène Rabout, Pierre Boisseau, Annika de Jong, Sophie Susen, Jenny Goudemand, Rémi Neviere, Pascal Fuseau, Olivier D Christophe, Peter J Lenting, Cécile V Denis, Caterina Casari

发表日期：2022

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A Combination of Two Variants p. (Val510 =) and p. (Pro2145Thrfs * 5), Responsible for von Willebrand Disease Type 3 in a Caribbean Patient

加勒比海地区一名患者罹患血管性血友病3型，其致病基因为两种变异的组合：p.(Val510=)和p.(Pro2145Thrfs*5)。

影响因子:1.8

doi:10.1055/s-0040-1718703

Dubois, Marie Daniela; Pierre-Louis, Serge; Rabout, Johalène; Denis, Cécile V; Christophe, Olivier; Susen, Sophie; Goudemand, Jenny; Boisseau, Pierre; Neviere, Rémi; Pierre-Louis, Olivier

发表日期：2020

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