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Maya Topf

Showing results (121-130 of 138) with videos related to

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Nature Communications|September 4, 2015
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizuresTommy Stödberg, Amy McTague, Arnaud J Ruiz, et al.
The Journal of Investigative Dermatology|December 25, 2022
PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to MelanomaSatyamaanasa Polubothu, Nicole Bender, Siobhan Muthiah, et al.
The Journal of Biological Chemistry|June 16, 2012
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle diseaseEloisa Carta, Seo-Kyung Chung, Victoria M James, et al.
JCI Insight|February 23, 2026
Structural modeling and functional characterization of a novel gain-of-function TLR8 variant causing severe inflammatory syndromeNikolaos T Skenteris, Elisa Luttermann, Sanjana Nair, et al.
Proteins|October 9, 2025
Protein Target Highlights in CASP16: Insights From the Structure ProvidersLeila T Alexander, Océane M Follonier, Andriy Kryshtafovych, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 25, 2022
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe DystoniaKimberley M Reid, Robert Spaull, Smrithi Salian, et al.
Proteins|August 24, 2019
Target highlights in CASP13: Experimental target structures through the eyes of their authorsRosalba Lepore, Andriy Kryshtafovych, Markus Alahuhta, et al.
Structure (London, England : 1993)|June 23, 2015
Outcome of the First wwPDB Hybrid/Integrative Methods Task Force WorkshopAndrej Sali, Helen M Berman, Torsten Schwede, et al.
Proteins|September 25, 2021
Target highlights in CASP14: Analysis of models by structure providersLeila T Alexander, Rosalba Lepore, Andriy Kryshtafovych, et al.
The Journal of Clinical Investigation|November 2, 2018
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapyLara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett, et al.
Pageof 14

Showing results (121-130 of 138) with videos related to

Sort By:
Pageof 14
Nature Communications|September 4, 2015
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizuresTommy Stödberg, Amy McTague, Arnaud J Ruiz, et al.
The Journal of Investigative Dermatology|December 25, 2022
PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to MelanomaSatyamaanasa Polubothu, Nicole Bender, Siobhan Muthiah, et al.
The Journal of Biological Chemistry|June 16, 2012
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle diseaseEloisa Carta, Seo-Kyung Chung, Victoria M James, et al.
JCI Insight|February 23, 2026
Structural modeling and functional characterization of a novel gain-of-function TLR8 variant causing severe inflammatory syndromeNikolaos T Skenteris, Elisa Luttermann, Sanjana Nair, et al.
Proteins|October 9, 2025
Protein Target Highlights in CASP16: Insights From the Structure ProvidersLeila T Alexander, Océane M Follonier, Andriy Kryshtafovych, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 25, 2022
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe DystoniaKimberley M Reid, Robert Spaull, Smrithi Salian, et al.
Proteins|August 24, 2019
Target highlights in CASP13: Experimental target structures through the eyes of their authorsRosalba Lepore, Andriy Kryshtafovych, Markus Alahuhta, et al.
Structure (London, England : 1993)|June 23, 2015
Outcome of the First wwPDB Hybrid/Integrative Methods Task Force WorkshopAndrej Sali, Helen M Berman, Torsten Schwede, et al.
Proteins|September 25, 2021
Target highlights in CASP14: Analysis of models by structure providersLeila T Alexander, Rosalba Lepore, Andriy Kryshtafovych, et al.
The Journal of Clinical Investigation|November 2, 2018
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapyLara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett, et al.
Pageof 14