Suchergebnisse - "Nurden, Paquita"

PubPharm (106)

1

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

enthalten in: Blood | 2017

von Sivapalaratnam, S. | Westbury, S. | Stephens, J. | +22

2

Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia

enthalten in: The journal of clinical investigation | 2017

von Pleines, I. | Woods, J. | Chappaz, S. | +27

3

Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia

enthalten in: The journal of clinical investigation | 2017

von Pleines, I. | Woods, J. | Chappaz, S. | +27

4

Should any Genetic Defect Affecting α-Granules in Platelets be Classified as Gray Platelet Syndrome?

enthalten in: American journal of hematology | 2016

von Nurden, A. | Nurden, P.

5

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

enthalten in: Blood | 2016

von Simeoni, I. | Stephens, J. | Hu, F. | +76

6

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

enthalten in: Blood | 2016

von Stritt, S. | Nurden, P. | Turro, E. | +42

7

Should any genetic defect affecting α‐granules in platelets be classified as gray platelet syndrome?

enthalten in: American journal of hematology | 2016

von Nurden, A. | Nurden, P.

8

A diagnostic approach that may help to discriminate inherited thrombocytopenia from chronic immune thrombocytopenia in adult patients

enthalten in: Platelets | 2016

von Fiore, M. | Pillois, X. | Lorrain, S. | +5

9

Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort

enthalten in: Human mutation | 2015

von Nurden, A. | Pillois, X. | Fiore, M. | +23

10

Analysis of 65 pregnancies in 34 women with five different forms of inherited platelet function disorders

enthalten in: British journal of haematology | 2015

von Civaschi, E. | Klersy, C. | Melazzini, F. | +13

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