Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Mark Williams

3PUBLICATIONS
17CO-AUTHORS
Cancer geneticsAerospace materialsNonlinear optics and spectroscopy
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (3)

Sort by Publication Date:
|Oct 14, 2024
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.

Cristina Fortuno, Elisa J Cops, Aimee L Davidson

|Feb 19, 2021
Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations.

Stijn N V Bossuyt, A Mattijs Punt, Ilona J de Graaf

|Jun 26, 2019
Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome.

Rossella Avagliano Trezza, Monica Sonzogni, Stijn N V Bossuyt

Pageof 1

Frequent Collaborators

2 joint publications

Stijn N V Bossuyt

2 joint publications

A Mattijs Punt

2 joint publications

Ype Elgersma

2 joint publications

Ben Distel

1 joint publications

Monica Sonzogni

1 joint publications

Diana C Rotaru

1 joint publications

Femke M S de Vrij

1 joint publications

Steven A Kushner

1 joint publications

Aimee L Davidson

1 joint publications

Giovanni Innella

Frequent Collaborators

2 joint publications

Stijn N V Bossuyt

2 joint publications

A Mattijs Punt

2 joint publications

Ype Elgersma

2 joint publications

Ben Distel

Top Related Videos

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of <em>BRCA1</em>, <em>BRCA2</em>, and 9 Genes Involved in DNA Damage Repair
08:15

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of <em>BRCA1</em>, <em>BRCA2</em>, and 9 Genes Involved in DNA Damage Repair

Published on : Oct 06, 2014

12.2K
A Scalable, Cell-Based Method for the Functional Assessment of <em>Ube3a</em> Variants
06:35

A Scalable, Cell-Based Method for the Functional Assessment of <em>Ube3a</em> Variants

Published on : Oct 10, 2022

2.2K
Behavioral Characterization of an Angelman Syndrome Mouse Model
11:05

Behavioral Characterization of an Angelman Syndrome Mouse Model

Published on : Oct 20, 2023

5.7K
See more related videos

Top Related Videos

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of <em>BRCA1</em>, <em>BRCA2</em>, and 9 Genes Involved in DNA Damage Repair
08:15

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of <em>BRCA1</em>, <em>BRCA2</em>, and 9 Genes Involved in DNA Damage Repair

Published on : Oct 06, 2014

12.2K
A Scalable, Cell-Based Method for the Functional Assessment of <em>Ube3a</em> Variants
06:35

A Scalable, Cell-Based Method for the Functional Assessment of <em>Ube3a</em> Variants

Published on : Oct 10, 2022

2.2K
Behavioral Characterization of an Angelman Syndrome Mouse Model
11:05

Behavioral Characterization of an Angelman Syndrome Mouse Model

Published on : Oct 20, 2023

5.7K
See more related videos