Pia Zacher
6PUBLICATIONS
150CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (6)
Sort by Publication Date:
|Apr 02, 2026
Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.Camille Engel, Michaela Rendek, Jessica Assoumani
|Jun 25, 2025
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.Camille Engel, Michaela Rendek, Jessica Assoumani
|Apr 16, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.Eric N Anderson, Stephan Drukewitz, Sukhleen Kour
|Jan 02, 2024
Molecular and Phenotypic Characterization of the RORB-Related Disorder.Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize
|Aug 29, 2023
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.Henry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss
|Jul 05, 2023
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.Kim M Thalwitzer, Jan H Driedger, Julie Xian
Pageof 1
Frequent Collaborators
4 joint publications
Konrad Platzer
3 joint publications
Thomas Smol
3 joint publications
Johannes R Lemke
2 joint publications
Ingo Helbig
2 joint publications
Pierre Blanc
2 joint publications
Deepa S Rajan
2 joint publications
Rami Abou Jamra
2 joint publications
Juliette Piard
2 joint publications
Camille Engel
2 joint publications
Georgia Ramantani
