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Delineation of the genetic and clinical spectrum of Phelan-..:
De Rubeis, Silvia
;
Siper, Paige
;
Durkin, Allison
...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s13229-018-0205-9. , 2018
Link:
https://www.hal.inserm.fr/inserm-01854988
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-ftccsdartic:oai:HAL:inserm-01854988v1&Exemplar=1&LAN=DE A1 De Rubeis, Silvia A1 Siper, Paige A1 Durkin, Allison A1 Weissman, Jordana A1 Muratet, François A1 Halpern, Danielle A1 Trelles, Maria del Pilar A1 Frank, Yitzchak A1 Lozano, Reymundo A1 Wang, A Ting A1 Holder, J Lloyd A1 Betancur, Catalina A1 Buxbaum, Joseph A1 Kolevzon, Alexander PB HAL CCSD; BioMed Central YR 2018 K1 Sequence variants K1 SHANK3 K1 Phenotype K1 22q13 deletion syndrome K1 Autism spectrum disorder K1 Intellectual disability K1 Phelan-McDermid syndrome K1 [SDV.GEN]Life Sciences [q-bio]/Genetics K1 [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health JF info:eu-repo/semantics/altIdentifier/doi/10.1186/s13229-018-0205-9 LK http://dx.doi.org/https://www.hal.inserm.fr/inserm-01854988 DO https://www.hal.inserm.fr/inserm-01854988 SF ELIB - SuUB Bremen
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