Aachen papers per year
24
26
Papers 4
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ARID1B-related disorder in 87 adults: Natural history and self-sustainability2024 Genetics in Medicine Open article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Pleuntje J. van der Sluijs, M. Gösgens, Alexander J.M. Dingemans, Pasquale Striano, Cyril Mignot, Anne Faudet, +71 more
6citations -
P106: Expanding the clinical and molecular spectrum of Pilarowski-Björnsson syndrome reveals sex-dependent effects*2026 Genetics in Medicine Open conference-abstract Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Eirny Tholl Thorolfsdottir, Kimberley Jade Anderson, Malak Ali Alghamdi, Naif A. M. Almontashiri, Brenda Barry, Matthias Begemann, +59 more
0citations -
P171: Developing an approach to screening rare genetic diagnoses for amenability to bespoke genetic therapy development2024 Genetics in Medicine Open article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
David Cheerie, Marlen C. Lauffer, Danique Beijer, Matthis Synofzik, Annemieke M Aartsma-Rus, Michael J. Szego, +4 more
0citations
4 results
Most active Aachen authors
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Annemieke M Aartsma-Rus 20,730 citations overall1 paper
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Gijs W.E. Santen 7,222 citations overall1 paper
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Matthias Begemann 4,069 citations overall1 paper
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Cordula Knopp 872 citations overall1 paper
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Pleuntje J. van der Sluijs 694 citations overall1 paper
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Marlen C. Lauffer 528 citations overall1 paper
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Fabienne G. Ropers 257 citations overall1 paper
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Karin R. Heitink 153 citations overall1 paper
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M. Gösgens 6 citations overall1 paper
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Meral Aktas Koptagel 2 citations overall1 paper
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Sophia Meyer 0 citations overall1 paper