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1 Ergebnisse
1
Rubinstein-Taybi 2 associated to novel EP300 mutations: dee..:
María López
;
Alberto García-Oguiza
;
Judith Armstrong
...
http://link.springer.com/article/10.1186/s12881-018-0548-2. , 2018
Link:
https://doi.org/10.1186/s12881-018-0548-2
RT Journal T1
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:a134cbfb26ba4247aa62eca80e8b71b8&Exemplar=1&LAN=DE A1 María López A1 Alberto García-Oguiza A1 Judith Armstrong A1 Inmaculada García-Cobaleda A1 Sixto García-Miñaur A1 Fernando Santos-Simarro A1 Verónica Seidel A1 Elena Domínguez-Garrido PB BMC YR 2018 K1 RSTS K1 EP300-Rubinstein-Taybi K1 Broad thumbs K1 Intellectual disability K1 EP300-mutations K1 EP300-RSTS-phenotype K1 Internal medicine K1 RC31-1245 K1 Genetics K1 QH426-470 JF http://link.springer.com/article/10.1186/s12881-018-0548-2 LK http://dx.doi.org/https://doi.org/10.1186/s12881-018-0548-2 DO https://doi.org/10.1186/s12881-018-0548-2 SF ELIB - SuUB Bremen
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