Marek Turnovec
5PUBLICATIONS
193CO-AUTHORS
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Publications (5)
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|Mar 23, 2026
A More Precise Description of the AKT2-Related Hypoinsulinemic Hypoglycemia and Overgrowth Syndrome Phenotype, Formerly Described Under the MORFAN Acronym.Marek Turnovec, Adéla Bubeníková, Ondřej Rýdlo
|Mar 10, 2025
Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases.Leonardo Chimirri, J Harry Caufield, Yasemin Bridges
|Apr 29, 2024
Body mass index is an overlooked confounding factor in existing clustering studies of 3D facial scans of children with autism spectrum disorder.Martin Schwarz, Jan Geryk, Markéta Havlovicová
|Nov 12, 2023
The Human Phenotype Ontology in 2024: phenotypes around the world.Michael A Gargano, Nicolas Matentzoglu, Ben Coleman
|May 20, 2020
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.Jana Čopíková, Jana Paděrová, Věra Románková
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Frequent Collaborators
3 joint publications
Markéta Havlovicová
3 joint publications
Michaela Zelinová
2 joint publications
Markus S Ladewig
2 joint publications
Bert Ba de Vries
2 joint publications
Veronika Moslerová
2 joint publications
J Harry Caufield
2 joint publications
Pablo Lapunzina
2 joint publications
Alexander Jm Dingemans
2 joint publications
Nicolas Matentzoglu
2 joint publications
Michael Gargano
