Hartmut Engels
6PUBLICATIONS
92CO-AUTHORS
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Publications (6)
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|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
|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
|Jun 26, 2023
Episignature analysis of moderate effects and mosaics.Konrad Oexle, Michael Zech, Lara G Stühn
|Jun 21, 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.Camille Engel, Stéphanie Valence, Geoffroy Delplancq
|Jul 02, 2021
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19.Axel Schmidt, Sophia Peters, Alexej Knaus
|Feb 18, 2020
Nine newly identified individuals refine the phenotype associated with MYT1L mutations.Isabelle C Windheuser, Jessica Becker, Kirsten Cremer
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Frequent Collaborators
3 joint publications
Axel Schmidt
3 joint publications
Alexej Knaus
3 joint publications
Sugirthan Sivalingam
3 joint publications
Peter M Krawitz
3 joint publications
Markus Nöthen
3 joint publications
Riccardo Berutti
2 joint publications
Hannah Klinkhammer
2 joint publications
Tobias Haack
2 joint publications
Tzung-Chien Hsieh
2 joint publications
Theresa Brunet
