Molecular Genetics & Genomic Medicine Sign in to save
Aachen papers per year
20
23
24
25
Papers 4
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ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant2020 Molecular Genetics & Genomic Medicine article Biochemistry, Genetics and Molecular Biology Glycosylation and Glycoproteins Research Open access
María Eugenia de la Morena‐Barrio, Maria Sabater Molina, Belén de la Morena‐Barrio, L. Renee Ruhaak, Antonia Miñano, José Padilla, +5 more
13citations -
Psychological Distress and Quality of Life in Families With a Germline CDKN2A Pathogenic Variant2025 Molecular Genetics & Genomic Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Anke M. Onnekink, Derk C.F. Klatte, Jeanin Elise van Hooft, S. H. van den Berg, S. M. S. van der Zwaan, Remco van Doorn, +4 more
2citations -
Hope, but never expect? Comparing parents' pre‐ and post‐disclosure attitudes toward return of results from diagnostic exome sequencing for their child2024 Molecular Genetics & Genomic Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Candice Cornelis, Aad Tibben, Eva H. Brilstra, Ineke L L E Bolt, Marieke van Summeren, Nine Knoers, +1 more
2citations
4 results
Most active Aachen authors
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Jeanin Elise van Hooft 30,871 citations overall1 paper
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Monique Esther van Leerdam 21,242 citations overall1 paper
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Thomas Eggermann 17,116 citations overall1 paper
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Aad Tibben 9,847 citations overall1 paper
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Remco van Doorn 8,355 citations overall1 paper
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L. Renee Ruhaak 7,437 citations overall1 paper
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Eveline M. A. Bleiker 4,988 citations overall1 paper
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Thomas P. Potjer 1,158 citations overall1 paper
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Chris Hinnen 958 citations overall1 paper
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Derk C.F. Klatte 615 citations overall1 paper
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Wouter H. G. Hubens 277 citations overall1 paper
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Anke M. Onnekink 226 citations overall1 paper
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S. H. van den Berg 35 citations overall1 paper
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Elia Schlaich 15 citations overall1 paper
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S. M. S. van der Zwaan 6 citations overall1 paper