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Marta Bleda

Showing results (11-20 of 25) with videos related to

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Scientific Reports|November 13, 2015
Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung diseaseBerta Luzón-Toro, Hongsheng Gui, Macarena Ruiz-Ferrer, et al.
Nucleic Acids Research|April 22, 2015
Babelomics 5.0: functional interpretation for new generations of genomic dataRoberto Alonso, Francisco Salavert, Francisco Garcia-Garcia, et al.
American Journal of Respiratory and Critical Care Medicine|March 12, 2024
Shared and Distinct Genomics of Chronic Thromboembolic Pulmonary Hypertension and Pulmonary EmbolismJames Liley, Michael Newnham, Marta Bleda, et al.
Circulation|November 25, 2016
Plasma Metabolomics Implicates Modified Transfer RNAs and Altered Bioenergetics in the Outcomes of Pulmonary Arterial HypertensionChristopher J Rhodes, Pavandeep Ghataorhe, John Wharton, et al.
Journal of Medical Genetics|September 8, 2021
Biallelic variants of <i>ATP13A3</i> cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortalityRajiv D Machado, Carrie L Welch, Matthias Haimel, et al.
Molecular Biology and Evolution|January 15, 2016
267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic VariationJoaquín Dopazo, Alicia Amadoz, Marta Bleda, et al.
The European Respiratory Journal|January 19, 2019
The ADAMTS13-VWF axis is dysregulated in chronic thromboembolic pulmonary hypertensionMichael Newnham, Kieron South, Marta Bleda, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|October 31, 2024
Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical PracticeIvone U S Leong, Claudia P Cabrera, Valentina Cipriani, et al.
Circulation|October 4, 2017
Phenotypic Characterization of <i>EIF2AK4</i> Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial HypertensionCharaka Hadinnapola, Marta Bleda, Matthias Haimel, et al.
Genome Biology|March 10, 2017
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genesHongsheng Gui, Duco Schriemer, William W Cheng, et al.
Pageof 3

Showing results (11-20 of 25) with videos related to

Sort By:
Pageof 3
Scientific Reports|November 13, 2015
Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung diseaseBerta Luzón-Toro, Hongsheng Gui, Macarena Ruiz-Ferrer, et al.
Nucleic Acids Research|April 22, 2015
Babelomics 5.0: functional interpretation for new generations of genomic dataRoberto Alonso, Francisco Salavert, Francisco Garcia-Garcia, et al.
American Journal of Respiratory and Critical Care Medicine|March 12, 2024
Shared and Distinct Genomics of Chronic Thromboembolic Pulmonary Hypertension and Pulmonary EmbolismJames Liley, Michael Newnham, Marta Bleda, et al.
Circulation|November 25, 2016
Plasma Metabolomics Implicates Modified Transfer RNAs and Altered Bioenergetics in the Outcomes of Pulmonary Arterial HypertensionChristopher J Rhodes, Pavandeep Ghataorhe, John Wharton, et al.
Journal of Medical Genetics|September 8, 2021
Biallelic variants of <i>ATP13A3</i> cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortalityRajiv D Machado, Carrie L Welch, Matthias Haimel, et al.
Molecular Biology and Evolution|January 15, 2016
267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic VariationJoaquín Dopazo, Alicia Amadoz, Marta Bleda, et al.
The European Respiratory Journal|January 19, 2019
The ADAMTS13-VWF axis is dysregulated in chronic thromboembolic pulmonary hypertensionMichael Newnham, Kieron South, Marta Bleda, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|October 31, 2024
Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical PracticeIvone U S Leong, Claudia P Cabrera, Valentina Cipriani, et al.
Circulation|October 4, 2017
Phenotypic Characterization of <i>EIF2AK4</i> Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial HypertensionCharaka Hadinnapola, Marta Bleda, Matthias Haimel, et al.
Genome Biology|March 10, 2017
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genesHongsheng Gui, Duco Schriemer, William W Cheng, et al.
Pageof 3