Julia Hoefele
8PUBLICATIONS
36CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (8)
Sort by Publication Date:
|Nov 13, 2025
Early diagnosis and intervention in congenital lower urinary tract obstruction: time to revise our approach?Jaap Mulder, Stefan Kohl, Federica Fontanella
|Mar 25, 2024
Familial congenital lower urinary tract obstruction (LUTO) suggested by screening for lower urinary tract dysfunction in parents of patients: A descriptive study.Fabian Ebach, Pauline Wagner, Raimund Stein
|Mar 01, 2024
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak
|Nov 02, 2022
Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations.Julia Fabian, Gabriel C Dworschak, Lea Waffenschmidt
|Oct 05, 2021
Exome sequencing implicates a novel heterozygous missense variant in DSTYK in autosomal dominant lower urinary tract dysfunction and mild hereditary spastic paraparesis.Clara Vidic, Marcin Zaniew, Szymon Jurga
Pageof 2
Frequent Collaborators
5 joint publications
Heiko Reutter
2 joint publications
Rik Westland
2 joint publications
Phillip Grote
1 joint publications
Sophia Schneider
1 joint publications
Stefan Herms
1 joint publications
Sugirthan Sivalingam
1 joint publications
Marcin Tkaczyk
1 joint publications
Monika Miklaszewska
1 joint publications
Przemyslaw Sikora
1 joint publications
Maria Szczepanska
