E-LIB Suche - Ergebnisse für: Jourdy, Yohann

1

Whole F8 gene sequencing identified pathogenic structural v..:

Jourdy, Yohann ; Chatron, Nicolas ; Frétigny, Mathilde...
Journal of Thrombosis and Haemostasis. 22 (2024) 6 - p. 1616-1626 , 2024

Link: https://doi.org/10.1016/..

2

Heterozygous large deletion mimicking homozygous substituti..:

Rezigue, Hamdi ; Chamouni, Pierre ; Fretigny, Mathilde...
Haemophilia. , 2024

Link: https://doi.org/10.1111/..

3

Whole F8 gene sequencing combined with splicing functional ..:

Dericquebourg, Amy ; Fretigny, Mathilde ; Leuci, Alexandre...
Haemophilia. 29 (2023) 5 - p. 1320-1333 , 2023

Link: https://doi.org/10.1111/..

4

Comprehensive analysis ofF8large deletions: Characterizatio..:

Jourdy, Yohann ; Chatron, Nicolas ; Fretigny, Mathilde...
Journal of Thrombosis and Haemostasis. 20 (2022) 10 - p. 2293-2305 , 2022

Link: https://doi.org/10.1111/..

5

Complete characterisation of two new large Xq28 duplication..:

Jourdy, Yohann ; Bardel, Claire ; Fretigny, Mathilde...
Haemophilia. 28 (2021) 1 - p. 117-124 , 2021

Link: https://doi.org/10.1111/..

6

The highly prevalent deletions inF8intron 13 found in Frenc..:

Jourdy, Yohann ; Frétigny, Mathilde ; Lassalle, Fanny...
Journal of Thrombosis and Haemostasis. 18 (2020) 5 - p. 1087-1093 , 2020

Link: https://doi.org/10.1111/..

7

Identification of new F8 deep intronic variations in patien..:

Dericquebourg, Amy ; Jourdy, Yohann ; Fretigny, Mathilde...
Haemophilia. 26 (2020) 5 - p. 847-854 , 2020

Link: https://doi.org/10.1111/..

8

The challenge of genetically unresolved haemophilia A patie..:

Lassalle, Fanny ; Jourdy, Yohann ; Jouan, Loubna...
Haemophilia. 26 (2020) 6 - p. 1056-1063 , 2020

Link: https://doi.org/10.1111/..

9

Reversal of rivaroxaban anticoagulant effect by prothrombin..:

Giffard-Quillon, Lorine ; Desmurs-Clavel, Helene ; Grange, Claire..
Thrombosis Journal. 18 (2020) 1 - p. , 2020

Link: https://doi.org/10.1186/..

10

Severe hemophilia A caused by an unbalanced chromosomal rea..:

Chatron, Nicolas ; Schluth‐Bolard, Caroline ; Frétigny, Mathilde...
Journal of Thrombosis and Haemostasis. 17 (2019) 7 - p. 1097-1103 , 2019

Link: https://doi.org/10.1111/..

11

The potential value of thrombin generation assay in the dia..:

Désage, Stéphanie ; Jousselme, Emilie ; Le Quellec, Sandra...
International Journal of Laboratory Hematology. 41 (2019) 5 - p. , 2019

Link: https://doi.org/10.1111/..

12

Splicing analysis of 26 F8 nucleotide variations using a mi..:

Jourdy, Yohann ; Fretigny, Mathilde ; Nougier, Christophe...
Haemophilia. 25 (2019) 2 - p. 306-315 , 2019

Link: https://doi.org/10.1111/..

13

Single‐center determination of reference factor II and fact..:

Désage, Stéphanie ; Jousselme, Emilie ; Négrier, Claude...
International Journal of Laboratory Hematology. 41 (2019) 5 - p. , 2019

Link: https://doi.org/10.1111/..

14

Why patients with THBD c.1611C>A (p.Cys537X) nonsense mutat..:

Jourdy, Yohann ; Enjolras, Nathalie ; Le Quellec, Sandra...
PLOS ONE. 12 (2017) 11 - p. e0188213 , 2017

Link: https://doi.org/10.1371/..

15

Effect of five therapeutic strategies on the coagulation de..:

Dargaud, Yesim ; Jourdy, Yohann ; Le Quellec, Sandra...
British Journal of Haematology. 174 (2015) 6 - p. 993-996 , 2015

Link: https://doi.org/10.1111/..