E-LIB Suche - Ergebnisse für: Vinciguerra, C

1

Case report: Asp194Ala variant in MFN2 is associated with A..:

Vinciguerra, C. ; Di Fonzo, A. ; Monfrini, E....
Frontiers in Genetics. 14 (2023) - p. , 2023

2

PB0210 Heterozygous Structural Variation Mimicking Homozygo..:

Jourdy, Y. ; Chamouni, P. ; Fretigny, M....
Research and Practice in Thrombosis and Haemostasis. 7 (2023) - p. 101282 , 2023

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

3

Peak width of skeletonized mean diffusivity (PSMD) and cogn..:

Vinciguerra, C. ; Giorgio, A. ; Zhang, J....
Brain Imaging and Behavior. 15 (2020) 4 - p. 2228-2233 , 2020

Link: https://doi.org/10.1007/..

4

Peak width of skeletonized mean diffusivity (PSMD) as marke..:

Vinciguerra, C. ; Giorgio, A. ; Zhang, J....
Multiple Sclerosis and Related Disorders. 27 (2019) - p. 294-297 , 2019

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

5

Recurrent F8 and F9 gene variants result from a founder eff..:

Lassalle, F. ; Marmontel, O. ; Zawadzki, C....
Haemophilia. 24 (2018) 4 - p. , 2018

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

6

Molecular cytogenetic characterization of five F8 complex r..:

Jourdy, Y. ; Chatron, N. ; Fretigny, M....
Haemophilia. 23 (2017) 4 - p. , 2017

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

7

Eye movement abnormalities in a patient with Zellweger spec..:

Rosini, F. ; Vinciguerra, C. ; Mignarri, A....
Neurological Sciences. 37 (2016) 6 - p. 1013-1015 , 2016

Link: https://doi.org/10.1007/..

8

Characterization of five associations of F8 missense mutati..:

Jourdy, Y. ; Nougier, C. ; Roualdes, O....
Haemophilia. 22 (2016) 4 - p. 583-589 , 2016

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

9

Study of six patients with completeF9deletion characterized..:

Jourdy, Y. ; Chatron, N. ; Carage, M.-L....
Journal of Thrombosis and Haemostasis. 14 (2016) 10 - p. 1988-1993 , 2016

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

10

Genotyping might help therapeutic decision‐making in patien..:

Rugeri, L. ; Fretigny, M. ; Dargaud, Y...
Haemophilia. 22 (2016) 5 - p. , 2016

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

11

Hydroxychloroquine neuromyotoxicity: a case with rapid cour..:

Vinciguerra, C. ; Sicurelli, F. ; Fioravanti, A....
Neurological Sciences. 36 (2015) 12 - p. 2293-2294 , 2015

Link: https://doi.org/10.1007/..

12

Usefulness of an in vitro cellular expression model for hae..:

Roualdes, O. ; Nougier, C. ; Fretigny, M....
Haemophilia. 21 (2015) 3 - p. , 2015

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

13

Characterization of four novel molecular changes in the pro..:

Nougier, C. ; Roualdes, O. ; Fretigny, M....
Haemophilia. 20 (2013) 2 - p. , 2013

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

14

Homozygosity for P.Cys183ser mutation in Notch3 gene may in..:

Bianchi, S. ; Rufa, A. ; Vinciguerra, C....
Journal of the Neurological Sciences. 333 (2013) - p. e658 , 2013

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

15

349 RELATION BETWEEN NON-INVASIVE LIVER FIBROSIS TESTS AND ..:

Roquin, G. ; Bertrais, S. ; Boursier, J....
Journal of Hepatology. 54 (2011) - p. S140 , 2011

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