Uwe Kornak
21PUBLICATIONS
194CO-AUTHORS

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Publications (21)
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|Aug 20, 2025
A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia.Jean Jacobs, Hristiana Lyubenova, Sven Potelle
|Jun 24, 2025
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.Axel Schmidt, Magdalena Danyel, Kathrin Grundmann
|Mar 27, 2025
Bone quality in pycnodysostosis: micropetrosis, locally distorted osteocyte lacuno-canalicular network, and heterogenous mineralization pattern in an adult female patient with multiple fractures.Nadja Fratzl-Zelman, Stéphane Blouin, Uwe Kornak
|Dec 16, 2024
Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia.Johannes Kopp, Denise Jahn, Guido Vogt
|Jul 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.Axel Schmidt, Magdalena Danyel, Kathrin Grundmann
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Frequent Collaborators
5 joint publications
Björn Fischer-Zirnsak
5 joint publications
Michael Amling
4 joint publications
Malte Spielmann
4 joint publications
Johannes Kopp
3 joint publications
Nadja Ehmke
3 joint publications
Markus Schülke
3 joint publications
Manuel Holtgrewe
3 joint publications
Sven Geißler
3 joint publications
Julian Stürznickel
3 joint publications
Guido Vogt