Janina Gburek-Augustat

8PUBLICATIONS
90CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)Central nervous systemPacific Peoples mothers and babies health and wellbeing
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Publications (8)

|Jun 18, 2026
ADA2 genotype and enzyme activity may predict vasculitic or hematologic DADA2 phenotype.

|Feb 10, 2026
Sialidosis type I: How to alleviate disabling myoclonic seizures?-A multicenter analysis of eight cases and review of the literature.

Janina Gburek-Augustat, I-Chun Lee, Marica Rubino

|Sep 10, 2024
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.

Jana Willim, Daniel Woike, Daniel Greene

|May 25, 2024
Still an Unsolved Question: The Place of Cranial Magnetic Resonance Imaging in Acute Acquired Concomitant Esotropia.

Luisa Mittendorf, Matthias K Bernhard, Ina Sterker

|Feb 24, 2024
The Impact of Demographic Characteristics on Parenting Stress among Parents of Children with Disabilities: A Cross-Sectional Study.

Maxi Scheibner, Cora Scheibner, Frauke Hornemann

|Aug 24, 2023
Acute and Chronic Kernicterus: MR Imaging Evolution of Globus Pallidus Signal Change during Childhood.

J Gburek-Augustat, I Sorge, M Stange

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Frequent Collaborators

2 joint publications

Andreas Merkenschlager

2 joint publications

Konrad Platzer

1 joint publications

I Sorge

1 joint publications

M Stange