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Chantal Thys

Showing results (31-40 of 43) with videos related to

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Plos One|June 9, 2012
Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunctionBenedetta Izzi, Inge Francois, Veerle Labarque, et al.
Blood|January 22, 2025
Functional assessment of genetic variants in thrombomodulin detected in patients with bleeding and thrombosisChristine Van Laer, Renaud Lavend'homme, Sarissa Baert, et al.
Journal of Thrombosis and Haemostasis : JTH|March 6, 2026
Prothrombotic PROC variant rebalancing haemostasis in severe haemophilia A with attenuated bleeding riskRadha Ramanan, Quentin Van Thillo, Renaud Lavend'homme, et al.
Blood|May 29, 2026
Reduced platelet formation associated with serine metabolic dysregulation in integrin αIIbβ3-deficient megakaryocytesKato Ramaekers, My Tran, Marco Lunghi, et al.
Haematologica|November 24, 2018
Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopeniaTadbir K Bariana, Veerle Labarque, Jessica Heremans, et al.
The Journal of Allergy and Clinical Immunology|February 3, 2018
Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndromeJessica Heremans, Josselyn E Garcia-Perez, Ernest Turro, et al.
Blood|June 21, 2019
Germline mutations in the transcription factor IKZF5 cause thrombocytopeniaClaire Lentaigne, Daniel Greene, Suthesh Sivapalaratnam, et al.
Nature Medicine|March 17, 2023
Genetic association analysis of 77,539 genomes reveals rare disease etiologiesDaniel Greene, , Daniela Pirri, et al.
Nature Genetics|February 28, 2012
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndromeCornelis A Albers, Dirk S Paul, Harald Schulze, 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.
Pageof 5

Showing results (31-40 of 43) with videos related to

Sort By:
Pageof 5
Plos One|June 9, 2012
Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunctionBenedetta Izzi, Inge Francois, Veerle Labarque, et al.
Blood|January 22, 2025
Functional assessment of genetic variants in thrombomodulin detected in patients with bleeding and thrombosisChristine Van Laer, Renaud Lavend'homme, Sarissa Baert, et al.
Journal of Thrombosis and Haemostasis : JTH|March 6, 2026
Prothrombotic PROC variant rebalancing haemostasis in severe haemophilia A with attenuated bleeding riskRadha Ramanan, Quentin Van Thillo, Renaud Lavend'homme, et al.
Blood|May 29, 2026
Reduced platelet formation associated with serine metabolic dysregulation in integrin αIIbβ3-deficient megakaryocytesKato Ramaekers, My Tran, Marco Lunghi, et al.
Haematologica|November 24, 2018
Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopeniaTadbir K Bariana, Veerle Labarque, Jessica Heremans, et al.
The Journal of Allergy and Clinical Immunology|February 3, 2018
Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndromeJessica Heremans, Josselyn E Garcia-Perez, Ernest Turro, et al.
Blood|June 21, 2019
Germline mutations in the transcription factor IKZF5 cause thrombocytopeniaClaire Lentaigne, Daniel Greene, Suthesh Sivapalaratnam, et al.
Nature Medicine|March 17, 2023
Genetic association analysis of 77,539 genomes reveals rare disease etiologiesDaniel Greene, , Daniela Pirri, et al.
Nature Genetics|February 28, 2012
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndromeCornelis A Albers, Dirk S Paul, Harald Schulze, 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.
Pageof 5