924610
Institut und Lehrstuhl für Humangenetik und Genommedizin Also known as:525000-2; Institut für Humangenetik| ID | I:(DE-82)525000-2_20140620 |
⇦ Institut für Humangenetik ⇧ RWTH Aachen ⇧
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Dissertation / PhD Thesis
First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions
Aachen : RWTH Aachen University 1 Online-Ressource : Diagramme (2025) [10.18154/RWTH-2025-08145] = Dissertation, Rheinisch-Westfälische Technische Hochschule Aachen, 2025
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Journal Article
Genetic variants and clinical phenotyping in 39 pediatric patients with neuropathic pain
Neuropediatrics : journal of pediatrics, neurobiology and neurogenetics 56(04), 249-258 (2025) [10.1055/a-2595-0572]
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Journal Article (Review Article)
Congenital Imprinting Diseases: Aetiology, Pre- and Perinatal Manifestations, Diagnosis and Care of Affected Families and Pregnancies
Geburtshilfe und Frauenheilkunde 85(11), 1141-1149 (2025) [10.1055/a-2567-3504]
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Dissertation / PhD Thesis
Funktionelle Analyse des Einflusses einer $\textit{NCOR2}$-Variante auf deren repressive Aktivität
Aachen IX,77 Seiten : Illustrationen (2025) = Dissertation, Rheinisch-Westfälische Technische Hochschule Aachen, 2025
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Journal Article
Modulating effects of fitness and physical activity on Alzheimer's disease: Implications from a six-month randomized controlled sports intervention
Journal of Alzheimer's disease : JAD 103(2), 552-569 (2025) [10.1177/13872877241303764]
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Journal Article
Allogeneic stem cell transplantation from variant-carrying family donors leads to long-term engraftment in Telomere Biology Disorders
Blood cancer journal 15(1), 142 (2025) [10.1038/s41408-025-01348-z]
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Dissertation / PhD Thesis
Auswirkung einer bislang unbekannten Deletionsmutation des Spleißfaktors SRRM4 auf die Synthese der neuronalen Isoform von Protrudin
Aachen : RWTH Aachen University 1 Online-Ressource : Illustrationen (2025) [10.18154/RWTH-2025-08691] = Dissertation, Rheinisch-Westfälische Technische Hochschule Aachen, 2025
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Journal Article (Abstract)
BPS2025 - Brain malformations and seizures by impaired function of TRiC chaperonin folding machinery
Biophysical journal : BJ 124(3, Supplement 1) 174a (2025) [10.1016/j.bpj.2024.11.947]
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Dissertation / PhD Thesis
Genomische und epigenetische Untersuchung von 36 Patienten mit Multi-Lokus Imprintingstörung (MLID) unter Einbeziehung klinischer Parameter
Aachen XI, 89 Seiten : Illustrationen (2025) = Dissertation, Rheinisch-Westfälische Technische Hochschule Aachen, 2025
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Journal Article
Reduced functional resting-state connectivity in chronic pain patients with small fiber neuropathy
The journal of pain 35, 105477 (2025) [10.1016/j.jpain.2025.105477]
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All known publications ...
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