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Matteo P Ferla

Showing results (21-30 of 32) with videos related to

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American Journal of Human Genetics|May 22, 2021
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanismsCaroline F Wright, Nicholas M Quaife, Laura Ramos-Hernández, et al.
Nature Communications|October 8, 2025
Combined crystallographic fragment screening and deep mutational scanning enable discovery of Zika virus NS2B-NS3 protease inhibitorsXiaomin Ni, R Blake Richardson, Andre Schutzer Godoy, et al.
Journal of Medical Genetics|June 29, 2021
Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disabilityNatalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause neurological, intestinal and immunological diseaseClaire G Salter, Yiying Cai, Bernice Lo, et al.
The Journal of Experimental Medicine|November 19, 2024
Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiencyElena Blanco, Carme Camps, Sameer Bahal, et al.
Brain : a Journal of Neurology|October 4, 2021
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathyDana Marafi, Jawid M Fatih, Rauan Kaiyrzhanov, et al.
American Journal of Human Genetics|May 19, 2021
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8Ilse Van Gucht, Josephina A N Meester, Jotte Rodrigues Bento, et al.
Brain : a Journal of Neurology|February 9, 2021
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathyAlistair T Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou, et al.
Biorxiv : the Preprint Server for Biology|December 3, 2020
Fragment Binding to the Nsp3 Macrodomain of SARS-CoV-2 Identified Through Crystallographic Screening and Computational DockingMarion Schuller, Galen J Correy, Stefan Gahbauer, et al.
Science Advances|April 15, 2021
Fragment binding to the Nsp3 macrodomain of SARS-CoV-2 identified through crystallographic screening and computational dockingMarion Schuller, Galen J Correy, Stefan Gahbauer, et al.
Pageof 4

Showing results (21-30 of 32) with videos related to

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Pageof 4
American Journal of Human Genetics|May 22, 2021
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanismsCaroline F Wright, Nicholas M Quaife, Laura Ramos-Hernández, et al.
Nature Communications|October 8, 2025
Combined crystallographic fragment screening and deep mutational scanning enable discovery of Zika virus NS2B-NS3 protease inhibitorsXiaomin Ni, R Blake Richardson, Andre Schutzer Godoy, et al.
Journal of Medical Genetics|June 29, 2021
Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disabilityNatalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause neurological, intestinal and immunological diseaseClaire G Salter, Yiying Cai, Bernice Lo, et al.
The Journal of Experimental Medicine|November 19, 2024
Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiencyElena Blanco, Carme Camps, Sameer Bahal, et al.
Brain : a Journal of Neurology|October 4, 2021
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathyDana Marafi, Jawid M Fatih, Rauan Kaiyrzhanov, et al.
American Journal of Human Genetics|May 19, 2021
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8Ilse Van Gucht, Josephina A N Meester, Jotte Rodrigues Bento, et al.
Brain : a Journal of Neurology|February 9, 2021
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathyAlistair T Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou, et al.
Biorxiv : the Preprint Server for Biology|December 3, 2020
Fragment Binding to the Nsp3 Macrodomain of SARS-CoV-2 Identified Through Crystallographic Screening and Computational DockingMarion Schuller, Galen J Correy, Stefan Gahbauer, et al.
Science Advances|April 15, 2021
Fragment binding to the Nsp3 macrodomain of SARS-CoV-2 identified through crystallographic screening and computational dockingMarion Schuller, Galen J Correy, Stefan Gahbauer, et al.
Pageof 4