Julia Vodopiutz
7PUBLICATIONS
49CO-AUTHORS
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Publications (7)
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|Mar 09, 2026
Deep-Intronic Variant in RUNX2 Causing Pseudo-Exon Inclusion in a Family With Cleidocranial Dysplasia.Dorothea Stojanovic, Dorota Garczarczyk-Asim, Julia Vodopiutz
|Mar 30, 2024
Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity.Georg-Friedrich Vogel, Alexandra Podpeskar, Dietmar Rieder
|Aug 29, 2023
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.Henry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss
|Mar 10, 2022
Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease.Marlene Panzer, André Viveiros, Benedikt Schaefer
|Mar 10, 2021
Rare skeletal disorders: a multidisciplinary postnatal approach to diagnosis and management.Nina-Katharina Walleczek, Kristina Förster, Martina Seyr
|Jun 20, 2020
Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria.Stephanie Waich, Andreas R Janecke, Walther Parson
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Frequent Collaborators
5 joint publications
Andreas R Janecke
1 joint publications
Nicholas Katsanis
1 joint publications
Erica E Davis
1 joint publications
Marlene Panzer
1 joint publications
André Viveiros
1 joint publications
Benedikt Schaefer
1 joint publications
Klaus Seppi
1 joint publications
Atbin Djamshidian
1 joint publications
Theodor Todorov
1 joint publications
William J H Griffiths
