Luisa Averdunk

ORCID

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 9

Top Venues

Clinical genetics

Neuropediatrics

Journal of inherited metabolic disease

Journal of clinical medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Luisa Averdunk, Khalid Al-Thihli, Harald Surowy, Hermann-Josef Lüdecke, Matthias Drechsler, Gökhan Yigit, Lukasz Smorag, Bassam Al Hallak, Yun Li, Janine Altmüller, Tanja Guthoff, Michael Wallot, Peter Nürnberg, Bernd Wollnik, Rami Abou Jamra, Almundher Al-Maawali, Dagmar Wieczorek
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain. Clinical genetics 103 (4) (2023)
Luisa Averdunk, Khalid Al-Thihli, Harald Surowy, Hermann-Josef Lüdecke, Matthias Drechsler, Gökhan Yigit, Lukasz Smorag, Bassam Al Hallak, Yun Li, Janine Altmüller, Tanja Guthoff, Michael Wallot, Peter Nürnberg, Bernd Wollnik, Rami Abou Jamra, Almundher Al-Maawali, Dagmar Wieczorek
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain. Clinical genetics 103 (4) (2023)
Luisa Averdunk, Khalid Al-Thihli, Harald Surowy, Hermann-Josef Lüdecke, Matthias Drechsler, Gökhan Yigit, Lukasz Smorag, Bassam Al Hallak, Yun Li, Janine Altmüller, Tanja Guthoff, Michael Wallot, Peter Nürnberg, Bernd Wollnik, Rami Abou Jamra, Almundher Al-Maawali, Dagmar Wieczorek
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain. Clinical genetics 103 (4) (2023)
Luisa Averdunk, Eva Thimm, Dirk Klee, Tobias B Haack, Felix Distelmaier
Classical homocystinuria presenting with transient basal ganglia pathology and dystonia. Journal of inherited metabolic disease (2023)
Luisa Averdunk, Dirk Klee, Dagmar Wieczorek, Tobias B Haack, Felix Distelmaier
RANBP2 Mutation Mimicking Viral Encephalitis. Neuropediatrics 53 (4) (2022)
Luisa Averdunk, Khalid Al-Thihli, Harald Surowy, Hermann-Josef Lüdecke, Matthias Drechsler, Gökhan Yigit, Lukasz Smorag, Bassam Al Hallak, Yun Li, Janine Altmüller, Tanja Guthoff, Michael Wallot, Peter Nürnberg, Bernd Wollnik, Rami Abou Jamra, Almundher Al-Maawali, Dagmar Wieczorek
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain. Clinical genetics (2022)
Luisa Averdunk, Sandra Donkervoort, Denise Horn, Stephan Waldmüller, Safoora Syeda, Sarah B Neuhaus, Katherine R Chao, Anne van Riesen, Darja Gauck, Tobias Haack, Anna S Japp, Unaa Lee, Carsten G Bönnemann, Ertan Mayatepek, Felix Distelmaier
Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant. Neuropediatrics 53 (5) (2022)
Luisa Averdunk, Juergen Bernhagen, Karl Fehnle, Harald Surowy, Hermann-Josef Lüdecke, Sören Mucha, Patrick Meybohm, Dagmar Wieczorek, Lin Leng, Gernot Marx, David E Leaf, Alexander Zarbock, Kai Zacharowski, null On Behalf Of The RIPHeart Study Collaborators, Richard Bucala, Christian Stoppe
The Macrophage Migration Inhibitory Factor (MIF) Promoter Polymorphisms (rs3063368, rs755622) Predict Acute Kidney Injury and Death after Cardiac Surgery. Journal of clinical medicine 9 (9) (2020)
Christian Stoppe, Luisa Averdunk, Andreas Goetzenich, Josefin Soppert, Arnaud Marlier, Sandra Kraemer, Jil Vieten, Mark Coburn, Ana Kowark, Bong-Song Kim, Gernot Marx, Steffen Rex, Akinobu Ochi, Lin Leng, Gilbert Moeckel, Andreas Linkermann, Omar El Bounkari, Alexander Zarbock, Juergen Bernhagen, Sonja Djudjaj, Richard John Bucala, Peter Boor
The protective role of macrophage migration inhibitory factor in acute kidney injury after cardiac surgery. Science translational medicine 10 (441) (2019)

Luisa Averdunk.css-eqlu8i{font-size:small;padding-left:4px;}

Publication Activity (10 Years)

Top Topics

Top Venues

Luisa Averdunk