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Ilenia Simeoni

Showing results (11-20 of 23) with videos related to

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Blood|June 24, 2020
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasiaClaire L Shovlin, Ilenia Simeoni, Kate Downes, et al.
Blood|January 9, 2017
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopeniaSuthesh Sivapalaratnam, Sarah K Westbury, Jonathan C Stephens, et al.
The Journal of Allergy and Clinical Immunology|February 26, 2018
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in EuropeansPaul Tuijnenburg, Hana Lango Allen, Siobhan O Burns, et al.
Blood|May 9, 2019
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disordersKate Downes, Karyn Megy, Daniel Duarte, et al.
Human Mutation|September 29, 2019
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variantsLoredana Bury, Karyn Megy, Jonathan C Stephens, et al.
Genome Medicine|May 8, 2015
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disordersSarah K Westbury, Ernest Turro, Daniel Greene, et al.
Science Immunology|August 12, 2022
Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with <i>TRAF3</i> mutationsWilliam Rae, John M Sowerby, Dorit Verhoeven, et al.
Blood Advances|August 5, 2020
Development and validation of a universal blood donor genotyping platform: a multinational prospective studyNicholas S Gleadall, Barbera Veldhuisen, Jeremy Gollub, et al.
Blood|February 26, 2016
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing lossSimon Stritt, Paquita Nurden, Ernest Turro, et al.
Science Translational Medicine|March 4, 2016
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologiesErnest Turro, Daniel Greene, Anouck Wijgaerts, et al.
Pageof 3

Showing results (11-20 of 23) with videos related to

Sort By:
Pageof 3
Blood|June 24, 2020
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasiaClaire L Shovlin, Ilenia Simeoni, Kate Downes, et al.
Blood|January 9, 2017
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopeniaSuthesh Sivapalaratnam, Sarah K Westbury, Jonathan C Stephens, et al.
The Journal of Allergy and Clinical Immunology|February 26, 2018
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in EuropeansPaul Tuijnenburg, Hana Lango Allen, Siobhan O Burns, et al.
Blood|May 9, 2019
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disordersKate Downes, Karyn Megy, Daniel Duarte, et al.
Human Mutation|September 29, 2019
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variantsLoredana Bury, Karyn Megy, Jonathan C Stephens, et al.
Genome Medicine|May 8, 2015
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disordersSarah K Westbury, Ernest Turro, Daniel Greene, et al.
Science Immunology|August 12, 2022
Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with <i>TRAF3</i> mutationsWilliam Rae, John M Sowerby, Dorit Verhoeven, et al.
Blood Advances|August 5, 2020
Development and validation of a universal blood donor genotyping platform: a multinational prospective studyNicholas S Gleadall, Barbera Veldhuisen, Jeremy Gollub, et al.
Blood|February 26, 2016
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing lossSimon Stritt, Paquita Nurden, Ernest Turro, et al.
Science Translational Medicine|March 4, 2016
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologiesErnest Turro, Daniel Greene, Anouck Wijgaerts, et al.
Pageof 3