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1 Ergebnisse
1
Loss-of-function variants in SRRM2 cause a neurodevelopment..:
Cuinat, Silvestre
;
Nizon, Mathilde
;
Isidor, Bertrand
...
https://research.rug.nl/en/publications/77735448-7d5b-48ef-953d-3b8af8523b5e. , 2022
Link:
https://hdl.handle.net/11370/77735448-7d5b-48ef-953d-3..
RT Journal T1
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder
UL https://suche.suub.uni-bremen.de/peid=base-ftunigroningenpu:oai:pure.rug.nl:publications_77735448-7d5b-48ef-953d-3b8af8523b5e&Exemplar=1&LAN=DE A1 Cuinat, Silvestre A1 Nizon, Mathilde A1 Isidor, Bertrand A1 Stegmann, Alexander A1 van Jaarsveld, Richard H A1 van Gassen, Koen L A1 van der Smagt, Jasper J A1 Volker-Touw, Catharina M.L A1 Holwerda, Sjoerd J.B A1 Terhal, Paulien A A1 Schuhmann, Sarah A1 Vasileiou, Georgia A1 Khalifa, Mohamed A1 Nugud, Alaa A A1 Yasaei, Hemad A1 Ousager, Lilian Bomme A1 Brasch-Andersen, Charlotte A1 Deb, Wallid A1 Besnard, Thomas A1 Simon, Marleen E.H A1 Amsterdam, Karin Huijsdens van A1 Verbeek, Nienke E A1 Matalon, Dena A1 Dykzeul, Natalie A1 White, Shana A1 Spiteri, Elizabeth A1 Devriendt, Koen A1 Boogaerts, Anneleen A1 Willemsen, Marjolein A1 Brunner, Han G A1 Sinnema, Margje A1 De Vries, Bert B.A A1 Gerkes, Erica H A1 Pfundt, Rolph A1 Izumi, Kosuke A1 Krantz, Ian D A1 Xu, Zhou L A1 Murrell, Jill R A1 Valenzuela, Irene A1 Cusco, Ivon A1 Rovira-Moreno, Eulàlia A1 Yang, Yaping A1 Bizaoui, Varoona A1 Patat, Olivier A1 Faivre, Laurence A1 Tran-Mau-Them, Frederic A1 Vitobello, Antonio A1 Denommé-Pichon, Anne Sophie A1 Philippe, Christophe A1 Bezieau, Stéphane A1 Cogné, Benjamin YR 2022 K1 Intellectual disability K1 Molecular genetics K1 Neurodevelopment K1 Spliceosome K1 SRRM2 JF https://research.rug.nl/en/publications/77735448-7d5b-48ef-953d-3b8af8523b5e LK http://dx.doi.org/https://hdl.handle.net/11370/77735448-7d5b-48ef-953d-3b8af8523b5e DO https://hdl.handle.net/11370/77735448-7d5b-48ef-953d-3b8af8523b5e SF ELIB - SuUB Bremen
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