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1 Ergebnisse
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Delineation of the genetic and clinical spectrum of Phelan-..:
Silvia De Rubeis
;
Paige M. Siper
;
Allison Durkin
...
http://link.springer.com/article/10.1186/s13229-018-0205-9. , 2018
Link:
https://doi.org/10.1186/s13229-018-0205-9
RT Journal T1
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:497665d6dcd74ecfa5022b064905380c&Exemplar=1&LAN=DE A1 Silvia De Rubeis A1 Paige M. Siper A1 Allison Durkin A1 Jordana Weissman A1 François Muratet A1 Danielle Halpern A1 Maria del Pilar Trelles A1 Yitzchak Frank A1 Reymundo Lozano A1 A. Ting Wang A1 J. Lloyd Holder A1 Catalina Betancur A1 Joseph D. Buxbaum A1 Alexander Kolevzon PB BMC YR 2018 K1 SHANK3 K1 Phelan-McDermid syndrome K1 22q13 deletion syndrome K1 Sequence variants K1 Phenotype K1 Autism spectrum disorder K1 Neurology. Diseases of the nervous system K1 RC346-429 JF http://link.springer.com/article/10.1186/s13229-018-0205-9 LK http://dx.doi.org/https://doi.org/10.1186/s13229-018-0205-9 DO https://doi.org/10.1186/s13229-018-0205-9 SF ELIB - SuUB Bremen
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