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Patrick May

Showing results (131-140 of 209) with videos related to

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Bioinformatics (Oxford, England)|May 16, 2019
Variant Score Ranker-a web application for intuitive missense variant prioritizationJuanjiangmeng Du, Monica Sudarsanam, Eduardo Pérez-Palma, et al.
Ebiomedicine|April 4, 2021
Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype studySana Amanat, Alvaro Gallego-Martinez, Joseph Sollini, et al.
Frontiers in Aging Neuroscience|April 13, 2026
Progression of <i>GBA1</i> severe and risk variants: a longitudinal mixed model analysisAnne-Marie Hanff, Christopher McCrum, Armin Rauschenberger, et al.
European Journal of Human Genetics : EJHG|January 24, 2018
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsyDheeraj R Bobbili, Dennis Lal, Patrick May, et al.
Medrxiv : the Preprint Server for Health Sciences|May 20, 2024
Distances from ligands as main predictive features for pathogenicity and functional effect of variants in NMDA receptorsLudovica Montanucci, Tobias Brünger, Nisha Bhattarai, et al.
Human Molecular Genetics|November 13, 2024
Ligand distances as key predictors of pathogenicity and function in NMDA receptorsLudovica Montanucci, Tobias Brünger, Nisha Bhattarai, et al.
Bioinformatics (Oxford, England)|April 27, 2023
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants onlineMarie Macnee, Eduardo Pérez-Palma, Tobias Brünger, et al.
Nucleic Acids Research|May 14, 2020
MISCAST: MIssense variant to protein StruCture Analysis web SuiTeSumaiya Iqbal, David Hoksza, Eduardo Pérez-Palma, et al.
Cancer Research|April 4, 2019
Hemap: An Interactive Online Resource for Characterizing Molecular Phenotypes across Hematologic MalignanciesPetri Pölönen, Juha Mehtonen, Jake Lin, et al.
European Journal of Human Genetics : EJHG|July 31, 2019
Assessment of genetic variant burden in epilepsy-associated brain lesionsLisa-Marie Niestroj, Patrick May, Mykyta Artomov, et al.
Pageof 21

Showing results (131-140 of 209) with videos related to

Sort By:
Pageof 21
Bioinformatics (Oxford, England)|May 16, 2019
Variant Score Ranker-a web application for intuitive missense variant prioritizationJuanjiangmeng Du, Monica Sudarsanam, Eduardo Pérez-Palma, et al.
Ebiomedicine|April 4, 2021
Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype studySana Amanat, Alvaro Gallego-Martinez, Joseph Sollini, et al.
Frontiers in Aging Neuroscience|April 13, 2026
Progression of <i>GBA1</i> severe and risk variants: a longitudinal mixed model analysisAnne-Marie Hanff, Christopher McCrum, Armin Rauschenberger, et al.
European Journal of Human Genetics : EJHG|January 24, 2018
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsyDheeraj R Bobbili, Dennis Lal, Patrick May, et al.
Medrxiv : the Preprint Server for Health Sciences|May 20, 2024
Distances from ligands as main predictive features for pathogenicity and functional effect of variants in NMDA receptorsLudovica Montanucci, Tobias Brünger, Nisha Bhattarai, et al.
Human Molecular Genetics|November 13, 2024
Ligand distances as key predictors of pathogenicity and function in NMDA receptorsLudovica Montanucci, Tobias Brünger, Nisha Bhattarai, et al.
Bioinformatics (Oxford, England)|April 27, 2023
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants onlineMarie Macnee, Eduardo Pérez-Palma, Tobias Brünger, et al.
Nucleic Acids Research|May 14, 2020
MISCAST: MIssense variant to protein StruCture Analysis web SuiTeSumaiya Iqbal, David Hoksza, Eduardo Pérez-Palma, et al.
Cancer Research|April 4, 2019
Hemap: An Interactive Online Resource for Characterizing Molecular Phenotypes across Hematologic MalignanciesPetri Pölönen, Juha Mehtonen, Jake Lin, et al.
European Journal of Human Genetics : EJHG|July 31, 2019
Assessment of genetic variant burden in epilepsy-associated brain lesionsLisa-Marie Niestroj, Patrick May, Mykyta Artomov, et al.
Pageof 21