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Jonathan C Stephens

Showing results (11-20 of 18) with videos related to

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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.
Nature Genetics|April 9, 2013
SMIM1 underlies the Vel blood group and influences red blood cell traitsAna Cvejic, Lonneke Haer-Wigman, Jonathan C Stephens, 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.
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.
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.
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|April 9, 2013
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architectureSonja I Berndt, Stefan Gustafsson, Reedik Mägi, et al.
Pageof 2

Showing results (11-20 of 18) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 18 results.
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.
Nature Genetics|April 9, 2013
SMIM1 underlies the Vel blood group and influences red blood cell traitsAna Cvejic, Lonneke Haer-Wigman, Jonathan C Stephens, 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.
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.
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.
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|April 9, 2013
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architectureSonja I Berndt, Stefan Gustafsson, Reedik Mägi, et al.
Pageof 2