Sökning: WFRF:(Butler KM) > ATP6V0C variants im...
Fältnamn | Indikatorer | Metadata |
---|---|---|
000 | 02348naa a2200757 4500 | |
001 | oai:prod.swepub.kib.ki.se:236074901 | |
003 | SwePub | |
008 | 230320s2022 | |||||||||||000 ||eng| | |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:2360749012 URI |
024 | 7 | a https://doi.org/10.1093/brain/awac3302 DOI |
040 | a (SwePub)ki | |
041 | a eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Mattison, KA4 aut |
245 | 1 0 | a ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy |
264 | 1 | c 2022 |
506 | a restricted | |
700 | 1 | a Tossing, G4 aut |
700 | 1 | a Mulroe, F4 aut |
700 | 1 | a Simmons, C4 aut |
700 | 1 | a Butler, KM4 aut |
700 | 1 | a Schreiber, A4 aut |
700 | 1 | a Alsadah, A4 aut |
700 | 1 | a Neilson, DE4 aut |
700 | 1 | a Naess, K4 aut |
700 | 1 | a Wedell, Au Karolinska Institutet4 aut |
700 | 1 | a Wredenberg, Au Karolinska Institutet4 aut |
700 | 1 | a Sorlin, A4 aut |
700 | 1 | a McCann, E4 aut |
700 | 1 | a Burghel, GJ4 aut |
700 | 1 | a Menendez, B4 aut |
700 | 1 | a Hoganson, GE4 aut |
700 | 1 | a Botto, LD4 aut |
700 | 1 | a Filloux, FM4 aut |
700 | 1 | a Aledo-Serrano, Á4 aut |
700 | 1 | a Gil-Nagel, A4 aut |
700 | 1 | a Tatton-Brown, K4 aut |
700 | 1 | a Verbeek, NE4 aut |
700 | 1 | a van Hirtum-Das, M4 aut |
700 | 1 | a Breckpot, J4 aut |
700 | 1 | a Hammer, TB4 aut |
700 | 1 | a Møller, RS4 aut |
700 | 1 | a Whitney, A4 aut |
700 | 1 | a Douglas, AGL4 aut |
700 | 1 | a Kharbanda, M4 aut |
700 | 1 | a Brunetti-Pierri, N4 aut |
700 | 1 | a Morleo, M4 aut |
700 | 1 | a Nigro, V4 aut |
700 | 1 | a May, HJ4 aut |
700 | 1 | a Tao, JX4 aut |
700 | 1 | a Argili, E4 aut |
700 | 1 | a Sherr, EH4 aut |
700 | 1 | a Dobyns, WB4 aut |
700 | 1 | a Consortium, GER4 aut |
700 | 1 | a Baines, RA4 aut |
700 | 1 | a Warwicker, J4 aut |
700 | 1 | a Parker, JA4 aut |
700 | 1 | a Banka, S4 aut |
700 | 1 | a Campeau, PM4 aut |
700 | 1 | a Escayg, A4 aut |
710 | 2 | a Karolinska Institutet4 org |
773 | 0 | t Brain : a journal of neurologyx 1460-2156 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:236074901 |
856 | 4 8 | u https://doi.org/10.1093/brain/awac330 |
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