Klaas Wierenga
4PUBLICATIONS
4CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (4)
Sort by Publication Date:
|May 16, 2022
Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome.Erica L Macke, Joel A Morales-Rosado, Sarah K Macklin-Mantia
|Sep 15, 2018
The first case of deafness-dystonia syndrome due to compound heterozygous variants inAamina Shakir, Alexandrea F Wadley, Gabriela Purcarin
|Jun 16, 2018
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.P Y Billie Au, Caitlin Goedhart, Marcia Ferguson
|May 12, 2018
A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy.Svein Isungset Støve, Marina Blenski, Asbjørg Stray-Pedersen
Pageof 1
