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| dc.contributor.author | Haack, Tobias | |
| dc.contributor.author | Riess, Angelika | |
| dc.date.accessioned | 2025-08-21T12:54:29Z | |
| dc.date.available | 2025-08-21T12:54:29Z | |
| dc.date.issued | 2024 | |
| dc.identifier.issn | 0028-0836 | |
| dc.identifier.uri | http://hdl.handle.net/10900/169307 | |
| dc.language.iso | en | de_DE |
| dc.publisher | Berlin : Nature Portfolio | de_DE |
| dc.relation.uri | http://dx.doi.org/10.1038/s41586-024-07773-7 | de_DE |
| dc.subject.ddc | 500 | de_DE |
| dc.title | De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome | de_DE |
| dc.type | Article | de_DE |
| utue.kommentar.intern | mehr als 100 Autoren | de_DE |
| utue.quellen.id | 20250526000000_01914 | |
| utue.publikation.seiten | 832-840 | de_DE |
| utue.personen.roh | Chen, Yuyang | |
| utue.personen.roh | Dawes, Ruebena | |
| utue.personen.roh | Kim, Hyung Chul | |
| utue.personen.roh | Ljungdahl, Alicia | |
| utue.personen.roh | Stenton, Sarah L. | |
| utue.personen.roh | Walker, Susan | |
| utue.personen.roh | Lord, Jenny | |
| utue.personen.roh | Lemire, Gabrielle | |
| utue.personen.roh | Martin-Geary, Alexandra C. | |
| utue.personen.roh | Ganesh, Vijay S. | |
| utue.personen.roh | Ma, Jialan | |
| utue.personen.roh | Ellingford, Jamie M. | |
| utue.personen.roh | Delage, Erwan | |
| utue.personen.roh | D'Souza, Elston N. | |
| utue.personen.roh | Dong, Shan | |
| utue.personen.roh | Adams, David R. | |
| utue.personen.roh | Allan, Kirsten | |
| utue.personen.roh | Bakshi, Madhura | |
| utue.personen.roh | Baldwin, Erin E. | |
| utue.personen.roh | Berger, Seth I. | |
| utue.personen.roh | Bernstein, Jonathan A. | |
| utue.personen.roh | Bhatnagar, Ishita | |
| utue.personen.roh | Blair, Ed | |
| utue.personen.roh | Brown, Natasha J. | |
| utue.personen.roh | Burrage, Lindsay C. | |
| utue.personen.roh | Chapman, Kimberly | |
| utue.personen.roh | Coman, David J. | |
| utue.personen.roh | Compton, Alison G. | |
| utue.personen.roh | Cunningham, Chloe A. | |
| utue.personen.roh | D'Souza, Precilla | |
| utue.personen.roh | Danecek, Petr | |
| utue.personen.roh | Delot, Emmanuele C. | |
| utue.personen.roh | Dias, Kerith-Rae | |
| utue.personen.roh | Elias, Ellen R. | |
| utue.personen.roh | Elmslie, Frances | |
| utue.personen.roh | Evans, Care-Anne | |
| utue.personen.roh | Ewans, Lisa | |
| utue.personen.roh | Ezell, Kimberly | |
| utue.personen.roh | Fraser, Jamie L. | |
| utue.personen.roh | Gallacher, Lyndon | |
| utue.personen.roh | Genetti, Casie A. | |
| utue.personen.roh | Goriely, Anne | |
| utue.personen.roh | Grant, Christina L. | |
| utue.personen.roh | Haack, Tobias | |
| utue.personen.roh | Higgs, Jenny E. | |
| utue.personen.roh | Hinch, Anjali G. | |
| utue.personen.roh | Hurles, Matthew E. | |
| utue.personen.roh | Kuechler, Alma | |
| utue.personen.roh | Lachlan, Katherine L. | |
| utue.personen.roh | Lalani, Seema R. | |
| utue.personen.roh | Lecoquierre, Francois | |
| utue.personen.roh | Leitao, Elsa | |
| utue.personen.roh | Le Fevre, Anna | |
| utue.personen.roh | Leventer, Richard J. | |
| utue.personen.roh | Liebelt, Jan E. | |
| utue.personen.roh | Lindsay, Sarah | |
| utue.personen.roh | Lockhart, Paul J. | |
| utue.personen.roh | Ma, Alan S. | |
| utue.personen.roh | Macnamara, Ellen F. | |
| utue.personen.roh | Mansour, Sahar | |
| utue.personen.roh | Maurer, Taylor M. | |
| utue.personen.roh | Mendez, Hector R. | |
| utue.personen.roh | Metcalfe, Kay | |
| utue.personen.roh | Montgomery, Stephen B. | |
| utue.personen.roh | Moosajee, Mariya | |
| utue.personen.roh | Nassogne, Marie-Cecile | |
| utue.personen.roh | Neumann, Serena | |
| utue.personen.roh | O'Donoghue, Michael | |
| utue.personen.roh | O'Leary, Melanie | |
| utue.personen.roh | Palmer, Elizabeth E. | |
| utue.personen.roh | Pattani, Nikhil | |
| utue.personen.roh | Phillips, John | |
| utue.personen.roh | Pitsava, Georgia | |
| utue.personen.roh | Pysar, Ryan | |
| utue.personen.roh | Rehm, Heidi L. | |
| utue.personen.roh | Reuter, Chloe M. | |
| utue.personen.roh | Revencu, Nicole | |
| utue.personen.roh | Riess, Angelika | |
| utue.personen.roh | Rius, Rocio | |
| utue.personen.roh | Rodan, Lance | |
| utue.personen.roh | Roscioli, Tony | |
| utue.personen.roh | Rosenfeld, Jill A. | |
| utue.personen.roh | Sachdev, Rani | |
| utue.personen.roh | Shaw-Smith, Charles J. | |
| utue.personen.roh | Simons, Cas | |
| utue.personen.roh | Sisodiya, Sanjay M. | |
| utue.personen.roh | Snell, Penny | |
| utue.personen.roh | St Clair, Laura | |
| utue.personen.roh | Stark, Zornitza | |
| utue.personen.roh | Stewart, Helen S. | |
| utue.personen.roh | Tan, Tiong Yang | |
| utue.personen.roh | Tan, Natalie B. | |
| utue.personen.roh | Temple, Suzanna E. L. | |
| utue.personen.roh | Thorburn, David R. | |
| utue.personen.roh | Tifft, Cynthia J. | |
| utue.personen.roh | Uebergang, Eloise | |
| utue.personen.roh | VanNoy, Grace E. | |
| utue.personen.roh | Vasudevan, Pradeep | |
| utue.personen.roh | Vilain, Eric | |
| utue.personen.roh | Viskochil, David H. | |
| utue.personen.roh | Wedd, Laura | |
| dcterms.isPartOf.ZSTitelID | Nature | de_DE |
| dcterms.isPartOf.ZS-Issue | 8026 | de_DE |
| dcterms.isPartOf.ZS-Volume | 632 | de_DE |
| utue.fakultaet | 04 Medizinische Fakultät | de_DE |
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4 Medizinische Fakultät [32907]