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Frontiers in Genetics|August 7, 2023
Case report: Asp194Ala variant in MFN2 is associated with ALS-FTD in an Italian familyC Vinciguerra, A Di Fonzo, E Monfrini, et al.
British Journal of Haematology|November 1, 1996
A nonsense mutation in the GPIIb heavy chain (Ser 870-->stop) impairs platelet GPIIb-IIIa expressionC Vinciguerra, A Khelif, M Alemany, et al.
Journal of the Neurological Sciences|July 23, 2026
Rituximab in AChR and MusK Myasthenia Gravis: long-term follow-up with different therapeutic protocolsC Erra, D Ricciardi, G Abbadessa, et al.
Journal of Thrombosis and Haemostasis : JTH|August 2, 2016
Study of six patients with complete F9 deletion characterized by cytogenetic microarray: role of the SOX3 gene in intellectual disabilityY Jourdy, N Chatron, M-L Carage, et al.
Thrombosis and Haemostasis|December 14, 1999
Factor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutationsO Attali, C Vinciguerra, M C Trzeciak, et al.
Multiple Sclerosis and Related Disorders|November 19, 2018
Peak width of skeletonized mean diffusivity (PSMD) as marker of widespread white matter tissue damage in multiple sclerosisC Vinciguerra, A Giorgio, J Zhang, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia|May 6, 2017
Molecular cytogenetic characterization of five F8 complex rearrangements: utility for haemophilia A genetic counsellingY Jourdy, N Chatron, M Fretigny, et al.
Brain Imaging and Behavior|October 9, 2020
Peak width of skeletonized mean diffusivity (PSMD) and cognitive functions in relapsing-remitting multiple sclerosisC Vinciguerra, A Giorgio, J Zhang, et al.
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