Julia Vodopiutz

Vienna, Austria

Last Updated: 09/26/2026

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Found 33 publications

Deep-Intronic Variant in RUNX2 Causing Pseudo-Exon Inclusion in a Family With Cleidocranial Dysplasia.

Deep-Intronic Variant in RUNX2 Causing Pseudo-Exon Inclusion in a Family With Cleidocranial Dysplasia.

Journal: Clinical genetics

Published: January 12, 2026

Characteristic immune cell interactions in livers of children with acute hepatitis revealed by spatial single-cell analysis identify a possible postacute sequel of COVID-19.

Characteristic immune cell interactions in livers of children with acute hepatitis revealed by spatial single-cell analysis identify a possible postacute sequel of COVID-19.

Journal: Gut

Published: September 12, 2024

Altered chaperone-nonmuscle myosin II interactions drive pathogenicity of the UNC45A c.710T>C variant in osteo-oto-hepato-enteric syndrome.

Altered chaperone-nonmuscle myosin II interactions drive pathogenicity of the UNC45A c.710T>C variant in osteo-oto-hepato-enteric syndrome.

Journal: JCI insight

Published: July 31, 2024

International expert opinion on the considerations for combining vosoritide and limb surgery: a modified delphi study.

International expert opinion on the considerations for combining vosoritide and limb surgery: a modified delphi study.

Journal: Orphanet journal of rare diseases

Published: March 14, 2024

Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity.

Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity.

Journal: Clinical genetics

Published: January 28, 2024

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.

Journal: NPJ genomic medicine

Published: August 16, 2023

Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant.

Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant.

Journal: Genes

Published: February 28, 2023

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

Journal: European journal of human genetics : EJHG

Published: December 21, 2022

Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family.

Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family.

Journal: Genes

Published: September 26, 2021

Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease.

Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease.

Journal: Hepatology communications

Published: September 10, 2021

The relation of etiology based on the 2017 ILAE classification to the effectiveness of the ketogenic diet in drug-resistant epilepsy in childhood.

The relation of etiology based on the 2017 ILAE classification to the effectiveness of the ketogenic diet in drug-resistant epilepsy in childhood.

Journal: Epilepsia

Published: May 03, 2021

Rare skeletal disorders: a multidisciplinary postnatal approach to diagnosis and management.

Rare skeletal disorders: a multidisciplinary postnatal approach to diagnosis and management.

Journal: Wiener medizinische Wochenschrift (1946)

Published: November 25, 2020

Showing 1-12 of 33

Last Updated: 09/26/2026