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Ernest Turro

Showing results (61-70 of 81) with videos related to

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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.
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.
Plos One|August 14, 2014
The South Asian genomeJohn C Chambers, James Abbott, Weihua Zhang, 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.
The Journal of Experimental Medicine|June 26, 2019
Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responsesSarah Spencer, Sevgi Köstel Bal, William Egner, 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 (New York, N.Y.)|May 25, 2019
Germline selection shapes human mitochondrial DNA diversityWei Wei, Salih Tuna, Michael J Keogh, 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.
Blood|February 26, 2016
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing lossSimon Stritt, Paquita Nurden, Ernest Turro, et al.
Nature Communications|September 10, 2024
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviorsJana Willim, Daniel Woike, Daniel Greene, et al.
Pageof 9

Showing results (61-70 of 81) with videos related to

Sort By:
Pageof 9
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.
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.
Plos One|August 14, 2014
The South Asian genomeJohn C Chambers, James Abbott, Weihua Zhang, 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.
The Journal of Experimental Medicine|June 26, 2019
Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responsesSarah Spencer, Sevgi Köstel Bal, William Egner, 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 (New York, N.Y.)|May 25, 2019
Germline selection shapes human mitochondrial DNA diversityWei Wei, Salih Tuna, Michael J Keogh, 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.
Blood|February 26, 2016
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing lossSimon Stritt, Paquita Nurden, Ernest Turro, et al.
Nature Communications|September 10, 2024
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviorsJana Willim, Daniel Woike, Daniel Greene, et al.
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