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| dc.contributor.author | Buchert, Rebecca | |
| dc.contributor.author | Huridou, Chrisovalantou | |
| dc.contributor.author | Sofan, Linda | |
| dc.contributor.author | Klingler, Doreen | |
| dc.contributor.author | Koko, Mahmoud | |
| dc.contributor.author | Park, Joohyun | |
| dc.contributor.author | Sturm, Marc | |
| dc.contributor.author | Lerche, Holger | |
| dc.contributor.author | Burkhalter, Martin David | |
| dc.contributor.author | Weber, Yvonne G. | |
| dc.contributor.author | Rieß, Olaf | |
| dc.contributor.author | Weber, Jonasz Jeremiasz | |
| dc.contributor.author | Philipp, Melanie Karin | |
| dc.contributor.author | Haack, Tobias | |
| dc.date.accessioned | 2025-12-22T07:45:51Z | |
| dc.date.available | 2025-12-22T07:45:51Z | |
| dc.date.issued | 2025 | |
| dc.identifier.issn | 0002-9297 | |
| dc.identifier.uri | http://hdl.handle.net/10900/173424 | |
| dc.language.iso | en | de_DE |
| dc.publisher | Cambridge : Cell Press | de_DE |
| dc.relation.uri | http://dx.doi.org/10.1016/j.ajhg.2024.12.019 | de_DE |
| dc.subject.ddc | 570 | de_DE |
| dc.subject.ddc | 610 | de_DE |
| dc.title | Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy | de_DE |
| dc.type | Article | de_DE |
| utue.quellen.id | 20250630000000_01779 | |
| utue.publikation.seiten | 374-393 | de_DE |
| utue.personen.roh | Buchert, Rebecca | |
| utue.personen.roh | Burkhalter, Martin D. | |
| utue.personen.roh | Huridou, Chrisovalantou | |
| utue.personen.roh | Sofan, Linda | |
| utue.personen.roh | Roser, Timo | |
| utue.personen.roh | Cremer, Kirsten | |
| utue.personen.roh | Alvi, Javeria Raza | |
| utue.personen.roh | Efthymiou, Stephanie | |
| utue.personen.roh | Froukh, Tawfiq | |
| utue.personen.roh | Gulieva, Sughra | |
| utue.personen.roh | Guliyeva, Ulviyya | |
| utue.personen.roh | Hamdallah, Moath | |
| utue.personen.roh | Holder-Espinasse, Muriel | |
| utue.personen.roh | Kaiyrzhanov, Rauan | |
| utue.personen.roh | Klingler, Doreen | |
| utue.personen.roh | Koko, Mahmoud | |
| utue.personen.roh | Matthies, Lars | |
| utue.personen.roh | Park, Joohyun | |
| utue.personen.roh | Sturm, Marc | |
| utue.personen.roh | Velic, Ana | |
| utue.personen.roh | Spranger, Stephanie | |
| utue.personen.roh | Sultan, Tipu | |
| utue.personen.roh | Engels, Hartmut | |
| utue.personen.roh | Lerche, Holger | |
| utue.personen.roh | Houlden, Henry | |
| utue.personen.roh | Pagnamenta, Alistair T. | |
| utue.personen.roh | Borggraefe, Ingo | |
| utue.personen.roh | Weber, Yvonne | |
| utue.personen.roh | Bonnen, Penelope E. | |
| utue.personen.roh | Maroofian, Reza | |
| utue.personen.roh | Riess, Olaf | |
| utue.personen.roh | Weber, Jonasz J. | |
| utue.personen.roh | Philipp, Melanie | |
| utue.personen.roh | Haack, Tobias B. | |
| dcterms.isPartOf.ZSTitelID | American Journal of Human Genetics | de_DE |
| dcterms.isPartOf.ZS-Issue | 2 | de_DE |
| dcterms.isPartOf.ZS-Volume | 112 | de_DE |
| utue.fakultaet | 04 Medizinische Fakultät | de_DE |
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4 Medizinische Fakultät [33966]