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1 Ergebnisse
1
Bi-allelic variants in NAE1 cause intellectual disability, ..:
Muffels, Irena J.J
;
Schene, Imre F
;
Rehmann, Holger
...
https://research.rug.nl/en/publications/7a4cfe00-a044-4183-8238-f4462c41ca55. , 2023
Link:
https://hdl.handle.net/11370/7a4cfe00-a044-4183-8238-f..
RT Journal T1
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration
UL https://suche.suub.uni-bremen.de/peid=base-ftunigroningenpu:oai:pure.rug.nl:publications_7a4cfe00-a044-4183-8238-f4462c41ca55&Exemplar=1&LAN=DE A1 Muffels, Irena J.J A1 Schene, Imre F A1 Rehmann, Holger A1 Massink, Maarten P.G A1 van der Wal, Maria M A1 Bauder, Corinna A1 Labeur, Martha A1 Armando, Natalia G A1 Lequin, Maarten H A1 Houben, Michiel L A1 Giltay, Jaques C A1 Haitjema, Saskia A1 Huisman, Albert A1 Vansenne, Fleur A1 Bluvstein, Judith A1 Pappas, John A1 Shailee, Lala V A1 Zarate, Yuri A A1 Mokry, Michal A1 van Haaften, Gijs W A1 Nieuwenhuis, Edward E.S A1 Refojo, Damian A1 van Wijk, Femke A1 Fuchs, Sabine A A1 van Hasselt, Peter M YR 2023 K1 lymphopenia K1 NAE1 K1 neddylation K1 neurodegeneration K1 ocurrence ratio K1 phenotypic specificity K1 post-translational protein modification K1 proteasome K1 ubiquitination JF https://research.rug.nl/en/publications/7a4cfe00-a044-4183-8238-f4462c41ca55 LK http://dx.doi.org/https://hdl.handle.net/11370/7a4cfe00-a044-4183-8238-f4462c41ca55 DO https://hdl.handle.net/11370/7a4cfe00-a044-4183-8238-f4462c41ca55 SF ELIB - SuUB Bremen
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