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| 001 | 1048713 | ||
| 005 | 20251202203137.0 | ||
| 024 | 7 | _ | |a 10.1016/j.xhgg.2025.100481 |2 doi |
| 024 | 7 | _ | |a 10.34734/FZJ-2025-04835 |2 datacite_doi |
| 037 | _ | _ | |a FZJ-2025-04835 |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Michell-Robinson, Mackenzie A. |0 P:(DE-HGF)0 |b 0 |
| 245 | _ | _ | |a Comprehensive genotype-phenotype analysisin POLR3-related disorders |
| 260 | _ | _ | |a Cambridge, Ma. |c 2025 |b Cell Press |
| 336 | 7 | _ | |a article |2 DRIVER |
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| 700 | 1 | _ | |a Perrier, Stefanie |0 P:(DE-HGF)0 |b 1 |
| 700 | 1 | _ | |a Gauthier, Samuel |0 P:(DE-HGF)0 |b 2 |
| 700 | 1 | _ | |a Derksen, Alexa |0 P:(DE-HGF)0 |b 3 |
| 700 | 1 | _ | |a Sabbagh, Quentin |0 P:(DE-HGF)0 |b 4 |
| 700 | 1 | _ | |a Girbig, Mathias |0 P:(DE-HGF)0 |b 5 |
| 700 | 1 | _ | |a Misiaszek, Agata D. |0 P:(DE-HGF)0 |b 6 |
| 700 | 1 | _ | |a Pizzino, Amy M. |0 P:(DE-HGF)0 |b 7 |
| 700 | 1 | _ | |a Renaud, Deborah L. |0 P:(DE-HGF)0 |b 8 |
| 700 | 1 | _ | |a De Assis Pereira, Danilo |0 P:(DE-HGF)0 |b 9 |
| 700 | 1 | _ | |a Okuda, Paola |0 P:(DE-HGF)0 |b 10 |
| 700 | 1 | _ | |a Maestri Karoleska, Luciana |0 P:(DE-HGF)0 |b 11 |
| 700 | 1 | _ | |a Keller, Stephanie |0 P:(DE-HGF)0 |b 12 |
| 700 | 1 | _ | |a Chong, Karen |0 P:(DE-HGF)0 |b 13 |
| 700 | 1 | _ | |a Gauquelin, Laurence |0 P:(DE-HGF)0 |b 14 |
| 700 | 1 | _ | |a Brais, Bernard |0 P:(DE-HGF)0 |b 15 |
| 700 | 1 | _ | |a Leube, Barbara |0 P:(DE-HGF)0 |b 16 |
| 700 | 1 | _ | |a Grider, Tiffany |0 P:(DE-HGF)0 |b 17 |
| 700 | 1 | _ | |a Shy, Michael E. |0 P:(DE-HGF)0 |b 18 |
| 700 | 1 | _ | |a Schüle, Rebecca |0 P:(DE-HGF)0 |b 19 |
| 700 | 1 | _ | |a Minnerop, Martina |0 P:(DE-Juel1)131622 |b 20 |
| 700 | 1 | _ | |a Bertini, Enrico |0 P:(DE-HGF)0 |b 21 |
| 700 | 1 | _ | |a Nicita, Francesco |0 P:(DE-HGF)0 |b 22 |
| 700 | 1 | _ | |a Tonduti, Davide |0 P:(DE-HGF)0 |b 23 |
| 700 | 1 | _ | |a Müller, Christoph W. |0 P:(DE-HGF)0 |b 24 |
| 700 | 1 | _ | |a Vanderver, Adeline |0 P:(DE-HGF)0 |b 25 |
| 700 | 1 | _ | |a Wolf, Nicole I. |0 P:(DE-HGF)0 |b 26 |
| 700 | 1 | _ | |a Bernard, G. |0 P:(DE-HGF)0 |b 27 |e Corresponding author |
| 773 | _ | _ | |a 10.1016/j.xhgg.2025.100481 |g Vol. 6, no. 4, p. 100481 - |0 PERI:(DE-600)3058157-6 |n 4 |p 100481 |t Human genetics and genomics advances |v 6 |y 2025 |x 2666-2477 |
| 856 | 4 | _ | |u https://juser.fz-juelich.de/record/1048713/files/Michell-Robinson_etal_HGGAdvances_2025.pdf |y OpenAccess |
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