Tobias Bartolomaeus
7PUBLICATIONS
94CO-AUTHORS
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Publications (7)
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|Oct 17, 2025
CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.Kamal Khan, Erika Tavares, Katherine Bishara
|Sep 17, 2025
PIGC-related encephalopathy: Lessons learned from 18 new probands.Allan Bayat, Maria Carla Borroto, Smrithi Salian
|Jan 02, 2024
Molecular and Phenotypic Characterization of the RORB-Related Disorder.Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize
|Jul 17, 2023
Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18.Tobias Bartolomaeus, Julia Hentschel, Rami Abou Jamra
|Nov 25, 2022
Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.Franziska Roessler, Anita E Beck, Ball Susie
|Oct 03, 2022
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.Bernt Popp, Melanie Brugger, Sibylle Poschmann
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Frequent Collaborators
5 joint publications
Rami Abou Jamra
4 joint publications
Bernt Popp
2 joint publications
Vincent Strehlow
2 joint publications
Sonja Neuser
2 joint publications
Ilona Krey
2 joint publications
Maha S Zaki
1 joint publications
Franziska Roessler
1 joint publications
Luis Bermúdez-Guzmán
1 joint publications
Alejandro Leal
1 joint publications
Melanie Brugger
