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

artículo científico publicado en 2016

An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of hemophilia B ⬇️

artículo científico publicado el 1 de julio de 2013

Clinical management, ethics and informed consent related to multi-gene panel-based high throughput sequencing testing for platelet disorders: Communication from the SSC of the ISTH

artículo científico publicado en 2020

Debate: Should the dose or duration of anticoagulants for the prevention of venous thrombosis be increased in patients with COVID-19 while we are awaiting the results of clinical trials?

artículo científico publicado en 2020

Diagnosis of rare bleeding disorders

artículo científico publicado en 2020

Mutation Detection by Southern Blotting ⬇️

artículo científico publicado el 1 de enero de 2011

NICE NG89 recommendations for extended pharmacological thromboprophylaxis - is it justified and is it cost effective: a rebuttal from the British Society for Haematology

artículo científico publicado en 2019

Phenotype description and response to thrombopoietin receptor agonist in -related disorder

artículo científico publicado en 2018

Recommendations for the clinical interpretation of genetic variants and presentation of results to patients with inherited bleeding disorders. A UK Haemophilia Centre Doctors' Organisation Good Practice Paper

scientific article published on 01 January 2019

Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia

artículo científico publicado en 2019

The EAHAD Blood Coagulation Factor VII Variant Database

scientific article published on 25 April 2020

The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers

scientific article published on 13 March 2020

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants

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