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Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism2024 Annals of Clinical and Translational Neurology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Maike Franziska Dohrn, Güney Bademci, Adriana P. Rebelo, Médéric Jeanne, Nicholas A. Borja, Danique Beijer, +6 more
3citations -
Antagonistic roles of canonical and alternative RPA in tandem CAG repeat diseases2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Neuroscience Genetic Neurodegenerative Diseases Open access
Terence Gall-Duncan, Jennifer Luo, Carla-Marie Jurkovic, Laura A. Fischer, Kyota Fujita, David E. Leib, +28 more
1citations -
Genetic susceptibility to neurodevelopmental conditions associates with neonatal DNA methylation patterns in the general population: an individual participant data meta-analysis2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Isabel K. Schuurmans, Dinka Smajlagić, V. Baltramonaityte, Anni Malmberg, Alexander Neumann, Nicole Creasey, +12 more
1citations -
Transcriptomic signatures associated with regional cortical thickness changes in Parkinson’s disease2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Parkinson's Disease Mechanisms and Treatments Open access
Arlin Keo, Oleh Dzyubachyk, Jeroen van der Grond, Jacobus Johannes van Hilten, Marcel J. T. Reinders, Ahmed Essam Mahfouz
0citations -
obophenotype/cell-ontology: 2026-03-17 Release2026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access
Shawn Tan, Chris J Mungall, Aleix Puig, Nicole Vasilevsky, David Osumi-Sutherland, Nicolas Matentzoglu, +22 more
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Intrauterine Adhesion Band Causing Fetal Leg Compression: A Case Report of a Rare Asherman Syndrome Complication in Pregnancy2025 Zeitschrift für Geburtshilfe und Neonatologie article Medicine Gynecological conditions and treatments
Tomáš Kupec, Nele Freerksen-Kirschner, Julia Wittenborn, Laila Najjari, Elmar Stickeler, Philipp Meyer-Wilmes
0citations