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Assessing the landscape of STXBP1-related disorders in 534 ..:
Xian, Julie
;
Parthasarathy, Shridhar
;
Ruggiero, Sarah M
...
https://www.repository.cam.ac.uk/handle/1810/338274. , 2022
Link:
https://www.repository.cam.ac.uk/handle/1810/338274
RT Journal T1
Assessing the landscape of STXBP1-related disorders in 534 individuals
UL https://suche.suub.uni-bremen.de/peid=base-ftunivcam:oai:www.repository.cam.ac.uk:1810_338274&Exemplar=1&LAN=DE A1 Xian, Julie A1 Parthasarathy, Shridhar A1 Ruggiero, Sarah M A1 Balagura, Ganna A1 Fitch, Eryn A1 Helbig, Katherine A1 Gan, Jing A1 Ganesan, Shiva A1 Kaufman, Michael C A1 Ellis, Colin A A1 Lewis-Smith, David A1 Galer, Peter A1 Cunningham, Kristin A1 O'Brien, Margaret A1 Cosico, Mahgenn A1 Baker, Kate A1 Darling, Alejandra A1 Veiga de Goes, Fernanda A1 El Achkar, Christelle M A1 Doering, Jan Henje A1 Furia, Francesca A1 García-Cazorla, Ángeles A1 Gardella, Elena A1 Geertjens, Lisa A1 Klein, Courtney A1 Kolesnik-Taylor, Anna A1 Lammertse, Hanna A1 Lee, Jeehun A1 Mackie, Alexandra A1 Misra-Isrie, Mala A1 Olson, Heather A1 Sexton, Emma A1 Sheidley, Beth A1 Smith, Lacey A1 Sotero, Luiza A1 Stamberger, Hannah A1 Syrbe, Steffen A1 Thalwitzer, Kim Marie A1 van Berkel, Annemiek A1 van Haelst, Mieke A1 Yuskaitis, Christopher A1 Weckhuysen, Sarah A1 Prosser, Ben A1 Son Rigby, Charlene A1 Demarest, Scott A1 Pierce, Samuel A1 Zhang, Yuehua A1 Møller, Rikke S A1 Bruining, Hilgo A1 Poduri, Annapurna A1 Zara, Federico A1 Verhage, Matthijs A1 Striano, Pasquale A1 Helbig, Ingo PB Oxford University Press (OUP); Mrc Cognition And Brain Sciences Unit; http://dx.doi.org/10.1093/brain/awab327; Brain YR 2022 K1 STXBP1 K1 Human Phenotype Ontology K1 developmental and epileptic encephalopathy K1 epilepsy K1 genetics K1 Electroencephalography K1 Humans K1 Infant K1 Munc18 Proteins K1 Retrospective Studies K1 Seizures K1 Spasms K1 Infantile JF https://www.repository.cam.ac.uk/handle/1810/338274 LK http://dx.doi.org/https://www.repository.cam.ac.uk/handle/1810/338274 DO https://www.repository.cam.ac.uk/handle/1810/338274 SF ELIB - SuUB Bremen
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