Researcher
Stefanie Brock
- Keywords:Medicine, Social medicine, public health and health care sciences
- Disciplines:Anatomical pathology
Affiliations
- Neurogenetics (Research group)
Member
From15 Apr 2021 → Today - Pathology (Department)
Member
From1 Sep 2018 → Today - Faculty of Medicine and Pharmacy (Faculty)
Member
From3 Sep 2015 → Today - Supporting clinical sciences (Department)
Member
From1 Apr 2024 → Today - Public Health Sciences (Department)
Member
From15 Apr 2021 → Today - Public Health Sciences (Department)
Member
From15 Apr 2021 → 20 Oct 2022 - Faculty of Medicine and Pharmacy (Faculty)
Member
From16 Sep 2019 → 13 Jan 2022 - Faculty of Medicine and Pharmacy (Faculty)
Member
From21 Aug 2018 → 27 Apr 2023
Publications
11 - 16 of 16
- Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing(2021)
Authors: Chloe A Stutterd, Stefanie Brock, Katrien Stouffs, Anna C Jansen, Miriam Fanjul-Fernandez, Paul J Lockhart, George McGillivray, Simone Mandelstam, Kate Pope, Martin B Delatycki, et al.
- Defining the phenotypical spectrum associated with variants in TUBB2A(2021)
Authors: Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning, K. Keymolen, Luc Régal, Romina Romaniello, Dagmar Wieczorek, Tim Matthias Storm, Karin Schaeferhoff, Ute Hehr, et al.
Pages: 1-8 - Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia(2020)
Authors: Darius Ebrahimi-Fakhari, Julian Teinert, Robert Behne, Miriam Wimmer, Angelica D'Amore, Kathrin Eberhardt, Barbara Brechmann, Marvin Ziegler, Dana M Jensen, Premsai Nagabhyrava, et al.
Pages: 2929-2944 - Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly(2020)
Authors: Katrien Stouffs, Patrick Verloo, Stefanie Brock, Luc Régal, Diane Beysen, Berten Ceulemans, Anna C Jansen, Marije Meuwissen
- TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities(2019)
Authors: Laura Vandervore, Rachel Schot, Chiara Milanese, Daphne J Smits, Esmee Kasteleijn, Andrew E Fry, Daniela T Pilz, Stefanie Brock, Esra Börklü-Yücel, Marco Post, et al.
Pages: 1126-1147 - Tubulinopathies continued(2018)
Authors: Stefanie Brock, Katrien Stouffs, Emmanuel Scalais, Marc D'Hooghe, K. Keymolen, Renzo Guerrini, William B Dobyns, Nataliya Di Donato, Anna C Jansen
Pages: 1132-1142