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Daniel Greene

Showing results (41-50 of 53) with videos related to

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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 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 Genetics|April 10, 2025
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsyDaniel Greene, Koenraad De Wispelaere, Jon Lees, 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.
Nucleic Acids Research|December 1, 2016
The Human Phenotype Ontology in 2017Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, et al.
Circulation. Genomic and Precision Medicine|December 15, 2020
Bayesian Inference Associates Rare <i>KDR</i> Variants with Specific Phenotypes in Pulmonary Arterial HypertensionEmilia M Swietlik, Daniel Greene, Na Zhu, et al.
Nature|June 6, 2020
Whole-genome sequencing of a sporadic primary immunodeficiency cohortJames E D Thaventhiran, Hana Lango Allen, Oliver S Burren, et al.
Blood|July 22, 2020
Novel manifestations of immune dysregulation and granule defects in gray platelet syndromeMatthew C Sims, Louisa Mayer, Janine H Collins, et al.
Pageof 6

Showing results (41-50 of 53) with videos related to

Sort By:
Pageof 6
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 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 Genetics|April 10, 2025
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsyDaniel Greene, Koenraad De Wispelaere, Jon Lees, 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.
Nucleic Acids Research|December 1, 2016
The Human Phenotype Ontology in 2017Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, et al.
Circulation. Genomic and Precision Medicine|December 15, 2020
Bayesian Inference Associates Rare <i>KDR</i> Variants with Specific Phenotypes in Pulmonary Arterial HypertensionEmilia M Swietlik, Daniel Greene, Na Zhu, et al.
Nature|June 6, 2020
Whole-genome sequencing of a sporadic primary immunodeficiency cohortJames E D Thaventhiran, Hana Lango Allen, Oliver S Burren, et al.
Blood|July 22, 2020
Novel manifestations of immune dysregulation and granule defects in gray platelet syndromeMatthew C Sims, Louisa Mayer, Janine H Collins, et al.
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