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Ernest Turro

Showing results (71-80 of 81) with videos related to

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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|July 14, 2017
Platelet function is modified by common sequence variation in megakaryocyte super enhancersRomina Petersen, John J Lambourne, Biola M Javierre, et al.
Nucleic Acids Research|December 1, 2016
The Human Phenotype Ontology in 2017Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, et al.
Nature|July 18, 2020
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohortJames E D Thaventhiran, Hana Lango Allen, Oliver S Burren, 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.
Science (New York, N.Y.)|September 27, 2014
Transcriptional diversity during lineage commitment of human blood progenitorsLu Chen, Myrto Kostadima, Joost H A Martens, et al.
Nature|June 26, 2020
Whole-genome sequencing of patients with rare diseases in a national health systemErnest Turro, William J Astle, Karyn Megy, et al.
Blood|April 17, 2016
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disordersIlenia Simeoni, Jonathan C Stephens, Fengyuan Hu, et al.
Nature Genetics|June 24, 2025
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
Pageof 9

Showing results (71-80 of 81) with videos related to

Sort By:
Pageof 9
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|July 14, 2017
Platelet function is modified by common sequence variation in megakaryocyte super enhancersRomina Petersen, John J Lambourne, Biola M Javierre, et al.
Nucleic Acids Research|December 1, 2016
The Human Phenotype Ontology in 2017Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, et al.
Nature|July 18, 2020
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohortJames E D Thaventhiran, Hana Lango Allen, Oliver S Burren, 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.
Science (New York, N.Y.)|September 27, 2014
Transcriptional diversity during lineage commitment of human blood progenitorsLu Chen, Myrto Kostadima, Joost H A Martens, et al.
Nature|June 26, 2020
Whole-genome sequencing of patients with rare diseases in a national health systemErnest Turro, William J Astle, Karyn Megy, et al.
Blood|April 17, 2016
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disordersIlenia Simeoni, Jonathan C Stephens, Fengyuan Hu, et al.
Nature Genetics|June 24, 2025
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
Pageof 9