Suchergebnisse - "Noris, Patrizia"

PubPharm (146)

1

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup

enthalten in: Haematologica | 2023

von Marconi, C. | Pecci, A. | Palombo, F. | +13

2

GP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant : a report of two new families

enthalten in: Annals of hematology | 2023

von Barozzi, S. | Pecci, A. | Marinoni, M. | +5

3

GP1BB c.179C > T is the most frequent cause of monoallelic Bernard–Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families

enthalten in: Annals of hematology | 2022

von Barozzi, S. | Pecci, A. | Marinoni, M. | +5

4

GP1BB c.179C > T is the most frequent cause of monoallelic Bernard–Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families

enthalten in: Annals of hematology | 2022

von Barozzi, S. | Pecci, A. | Marinoni, M. | +5

5

Expert opinion on the use of platelet secretion assay for the diagnosis of inherited platelet function disorders : Communication from the ISTH SSC Subcommittee on Platelet Physiology

enthalten in: Journal of thrombosis and haemostasis : JTH | 2022

von Mezzano, D. | Harrison, P. | Frelinger, A. | +4

6

ETV6-related thrombocytopenia : dominant negative effect of mutations as common pathogenic mechanism

enthalten in: Haematologica | 2022

von Faleschini, M. | Ammeti, D. | Papa, N. | +12

7

GNE-related thrombocytopenia : evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme

enthalten in: Haematologica | 2022

von Bottega, R. | Marzollo, A. | Marinoni, M. | +22

8

Dysregulation of oncogenic factors by GFI1B p32 : investigation of a novel GFI1B germline mutation

enthalten in: Haematologica | 2022

von Faleschini, M. | Papa, N. | Morel-Kopp, M. | +9

9

Expert opinion on the use of platelet secretion assay for the diagnosis of inherited platelet function disorders : Communication from the ISTH SSC Subcommittee on Platelet Physiology

enthalten in: Journal of Thrombosis and Haemostasis | 2022

von Mezzano, D. | Harrison, P. | Frelinger, A. | +4

10

A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly

enthalten in: International journal of molecular sciences | 2021

von Barozzi, S. | Bozzi, V. | De Rocco, D. | +4

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