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Thrombosis Journal
|
August 29, 2020
Reversal of rivaroxaban anticoagulant effect by prothrombin complex concentrates: which dose is sufficient to restore normal thrombin generation?
Lorine Giffard-Quillon, Helene Desmurs-Clavel, Claire Grange, et al.
Journal of Thrombosis and Haemostasis : JTH
|
July 27, 2022
Comprehensive analysis of F8 large deletions: Characterization of full breakpoint junctions and description of a possible DNA breakage hotspot in intron 6
Yohann Jourdy, Nicolas Chatron, Mathilde Fretigny, et al.
Journal of Thrombosis and Haemostasis : JTH
|
February 20, 2020
The highly prevalent deletions in F8 intron 13 found in French mild hemophilia A patients result from both founder effect and recurrent de novo events
Yohann Jourdy, Mathilde Frétigny, Fanny Lassalle, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia
|
January 29, 2019
Splicing analysis of 26 F8 nucleotide variations using a minigene assay
Yohann Jourdy, Mathilde Fretigny, Christophe Nougier, et al.
American Journal of Human Genetics
|
January 24, 2018
Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization
Yohann Jourdy, Alexandre Janin, Mathilde Fretigny, et al.
Plos One
|
November 18, 2017
Why patients with THBD c.1611C>A (p.Cys537X) nonsense mutation have high levels of soluble thrombomodulin?
Yohann Jourdy, Nathalie Enjolras, Sandra Le Quellec, et al.
Journal of Thrombosis and Haemostasis : JTH
|
January 25, 2023
Whole F9 gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patients
Amy Dericquebourg, Mathilde Fretigny, Nicolas Chatron, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia
|
July 6, 2023
Whole F8 gene sequencing combined with splicing functional analyses led to a substantial increase of the molecular diagnosis yield for non-severe haemophilia A
Amy Dericquebourg, Mathilde Fretigny, Alexandre Leuci, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia
|
October 23, 2020
The challenge of genetically unresolved haemophilia A patients: Interest of the combination of whole F8 gene sequencing and functional assays
Fanny Lassalle, Yohann Jourdy, Loubna Jouan, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia
|
August 20, 2020
Identification of new F8 deep intronic variations in patients with haemophilia A
Amy Dericquebourg, Yohann Jourdy, Mathilde Fretigny, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 15) with videos related to
Sort By:
Page
of 2
Thrombosis Journal
|
August 29, 2020
Reversal of rivaroxaban anticoagulant effect by prothrombin complex concentrates: which dose is sufficient to restore normal thrombin generation?
Lorine Giffard-Quillon, Helene Desmurs-Clavel, Claire Grange, et al.
Journal of Thrombosis and Haemostasis : JTH
|
July 27, 2022
Comprehensive analysis of F8 large deletions: Characterization of full breakpoint junctions and description of a possible DNA breakage hotspot in intron 6
Yohann Jourdy, Nicolas Chatron, Mathilde Fretigny, et al.
Journal of Thrombosis and Haemostasis : JTH
|
February 20, 2020
The highly prevalent deletions in F8 intron 13 found in French mild hemophilia A patients result from both founder effect and recurrent de novo events
Yohann Jourdy, Mathilde Frétigny, Fanny Lassalle, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia
|
January 29, 2019
Splicing analysis of 26 F8 nucleotide variations using a minigene assay
Yohann Jourdy, Mathilde Fretigny, Christophe Nougier, et al.
American Journal of Human Genetics
|
January 24, 2018
Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization
Yohann Jourdy, Alexandre Janin, Mathilde Fretigny, et al.
Plos One
|
November 18, 2017
Why patients with THBD c.1611C>A (p.Cys537X) nonsense mutation have high levels of soluble thrombomodulin?
Yohann Jourdy, Nathalie Enjolras, Sandra Le Quellec, et al.
Journal of Thrombosis and Haemostasis : JTH
|
January 25, 2023
Whole F9 gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patients
Amy Dericquebourg, Mathilde Fretigny, Nicolas Chatron, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia
|
July 6, 2023
Whole F8 gene sequencing combined with splicing functional analyses led to a substantial increase of the molecular diagnosis yield for non-severe haemophilia A
Amy Dericquebourg, Mathilde Fretigny, Alexandre Leuci, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia
|
October 23, 2020
The challenge of genetically unresolved haemophilia A patients: Interest of the combination of whole F8 gene sequencing and functional assays
Fanny Lassalle, Yohann Jourdy, Loubna Jouan, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia
|
August 20, 2020
Identification of new F8 deep intronic variations in patients with haemophilia A
Amy Dericquebourg, Yohann Jourdy, Mathilde Fretigny, et al.
Page
of 2