Liesbeth T Wintjes

2PUBLICATIONS
11CO-AUTHORS
Medical biochemistry - lipidsCancer genetics
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (2)

Sort by Publication Date:
|Dec 24, 2021
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.

Sofia Barbosa-Gouveia, Maria E Vázquez-Mosquera, Emiliano Gonzalez-Vioque

|Nov 10, 2020
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.

Liesbeth T M Wintjes, Maina Kava, Frans A van den Brandt

Pageof 1

Frequent Collaborators

2 joint publications

Richard J T Rodenburg

1 joint publications

Omar A Z Tutakhel

1 joint publications

David R Thorburn

1 joint publications

Shanti Balasubramaniam

1 joint publications

Sofia Barbosa-Gouveia

1 joint publications

Maria E Vázquez-Mosquera

1 joint publications

Álvaro Hermida-Ameijeiras

1 joint publications

Laura L Valverde

1 joint publications

Judith Armstrong-Moron

1 joint publications

Antonia Kappen

Frequent Collaborators

2 joint publications

Richard J T Rodenburg

1 joint publications

Omar A Z Tutakhel

1 joint publications

David R Thorburn

1 joint publications

Shanti Balasubramaniam

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
Jove
Visualize
Contact Us

Top Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on : Apr 04, 2018

34.1K
Visualization of Mitochondrial Respiratory Function using Cytochrome <em>C</em> Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry
06:53

Visualization of Mitochondrial Respiratory Function using Cytochrome <em>C</em> Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry

Published on : Nov 23, 2011

37.4K
See more related videos

Top Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on : Apr 04, 2018

34.1K
Visualization of Mitochondrial Respiratory Function using Cytochrome <em>C</em> Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry
06:53

Visualization of Mitochondrial Respiratory Function using Cytochrome <em>C</em> Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry

Published on : Nov 23, 2011

37.4K
See more related videos