Suchergebnisse - "Nurden, Paquita"

PubPharm (211)

51

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

52

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

53

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.

54

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

55

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. | +14

56

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

57

αIIbβ3 variants defined by next-generation sequencing : predicting variants likely to cause Glanzmann thrombasthenia

enthalten in: Proceedings of the National Academy of Sciences of the United States of America | 2015

von Buitrago, L. | Rendon, A. | Liang, Y. | +72

58

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

enthalten in: Genome medicine | 2015

von Westbury, S. | Turro, E. | Greene, D. | +37

59

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

enthalten in: Genome medicine | 2015

von Westbury, S. | Turro, E. | Greene, D. | +37

60

Corrigendum : Megakaryocyte-specific Profilin1-deficiency alters microtubule stability and causes a Wiskott-Aldrich syndrome-like platelet defect

enthalten in: Nature communications | 2015

von Bender, M. | Stritt, S. | Nurden, P. | +14

ErratumFor: Nat Commun. 2014;5:4746 Heinze, Katrin [corrected to Heinze, Katrin G]. - PMID 25187265