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pro vyhledávání: '"Josefine Eck"'
Autor:
Paul Yangho Park, Lauren Elizabeth Bleakley, Nadia Saraya, Reem Al-Jawahiri, Josefine Eck, Marc Anthony Aloi, Holly Melland, Kate Baker, Sarah Louise Gordon
Publikováno v:
EBioMedicine, Vol 109, Iss , Pp 105416- (2024)
Summary: Background: Pathogenic missense variants in the essential synaptic vesicle protein synaptotagmin-1 (SYT1) cause a neurodevelopmental disorder characterised by motor delay and intellectual disability, hyperkinetic movement disorder, episodic
Externí odkaz:
https://doaj.org/article/d0beee659cc34aa19b071a4a9701d3c3
Autor:
Vivien M. Y. Wong‐Spracklen, Anna Kolesnik, Josefine Eck, Saras Sabanathan, Olivera Spasic‐Boskovic, Anna Maw, Kate Baker
Publikováno v:
American Journal of Medical Genetics Part A. 188:3306-3311
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c2de6a927489f92d662d35976c772b23
https://doi.org/10.1002/ajmg.a.62960
https://doi.org/10.1002/ajmg.a.62960