about
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia.A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.Genomics of platelet disorders.Transcriptional diversity during lineage commitment of human blood progenitors.Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.Altered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy.How should we test for nonsevere heritable platelet function disorders?Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.Chorein detection for the diagnosis of chorea-acanthocytosis.Matching surgical operating capacity to demand using estimates of operating times.High haematocrit in cyanotic congenital heart disease affects how fibrinogen activity is determined by rotational thromboelastometry.ACTN1 variants associated with thrombocytopenia.TUBB1 variants and human platelet traits.The concept of surgical operating list 'efficiency': a formula to describe the term.Giant cell granuloma with aneurysmal bone cyst change within the mandible during pregnancy: a management dilemma.Protease-Activated Receptor 4 Variant p.Tyr157Cys Reduces Platelet Functional Responses and Alters Receptor Trafficking.Partial deletion of the αC-domain in the Fibrinogen Perth variant is associated with thrombosis, increased clot strength and delayed fibrinolysisPhenotype description and response to thrombopoietin receptor agonist in -related disorderOperating room efficiency in the National Health ServiceDysfunction of the PI3 kinase/Rap1/integrin α(IIb)β(3) pathway underlies ex vivo platelet hypoactivity in essential thrombocythemiaMonoallelic loss-of-function THPO variants cause heritable thrombocytopeniaNext-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variantsInherited missense variants that affect GFI1B function do not necessarily cause bleeding diathesesGenetic Techniques Used in the Diagnosis of Inherited Platelet DisordersFLNA variants associated with disorders of platelet number or function
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description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Sarah K Westbury
@nl
Sarah K Westbury
@sl
Sarah K. Westbury
@en
Sarah K. Westbury
@es
type
label
Sarah K Westbury
@nl
Sarah K Westbury
@sl
Sarah K. Westbury
@en
Sarah K. Westbury
@es
prefLabel
Sarah K Westbury
@nl
Sarah K Westbury
@sl
Sarah K. Westbury
@en
Sarah K. Westbury
@es
P106
P1153
56371874700
P21
P31
P496
0000-0002-0950-8148