Search: onr:"swepub:oai:prod.swepub.kib.ki.se:145338504" > De novo variants in...
Fältnamn | Indikatorer | Metadata |
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000 | 03900naa a2201009 4500 | |
001 | oai:prod.swepub.kib.ki.se:145338504 | |
003 | SwePub | |
008 | 240701s2021 | |||||||||||000 ||eng| | |
009 | oai:lup.lub.lu.se:c32da16d-1785-46c0-bfe9-fe047c4b640d | |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1453385042 URI |
024 | 7 | a https://doi.org/10.1038/s41436-020-01020-w2 DOI |
024 | 7 | a https://lup.lub.lu.se/record/c32da16d-1785-46c0-bfe9-fe047c4b640d2 URI |
040 | a (SwePub)kid (SwePub)lu | |
041 | a eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Klockner, Cu Leipzig University4 aut |
245 | 1 0 | a De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy |
264 | 1 | b Elsevier BV,c 2021 |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
700 | 1 | a Sticht, H4 aut |
700 | 1 | a Zacher, P4 aut |
700 | 1 | a Popp, B4 aut |
700 | 1 | a Babcock, HE4 aut |
700 | 1 | a Bakker, DP4 aut |
700 | 1 | a Barwick, K4 aut |
700 | 1 | a Bonfert, MV4 aut |
700 | 1 | a Bonnemann, CG4 aut |
700 | 1 | a Brilstra, EH4 aut |
700 | 1 | a Chung, WK4 aut |
700 | 1 | a Clarke, AJ4 aut |
700 | 1 | a Devine, P4 aut |
700 | 1 | a Donkervoort, S4 aut |
700 | 1 | a Lundgren, Johanu Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital4 aut0 (Swepub:lu)pedi-jlu |
700 | 1 | a Friedman, J4 aut |
700 | 1 | a Gates, A4 aut |
700 | 1 | a Ghoumid, J4 aut |
700 | 1 | a Hobson, E4 aut |
700 | 1 | a Horvath, G4 aut |
700 | 1 | a Keller-Ramey, J4 aut |
700 | 1 | a Keren, B4 aut |
700 | 1 | a Kurian, MA4 aut |
700 | 1 | a Lee, V4 aut |
700 | 1 | a Leppig, KA4 aut |
700 | 1 | a Lundgren, J4 aut |
700 | 1 | a McDonald, MT4 aut |
700 | 1 | a McTague, A4 aut |
700 | 1 | a Mefford, HC4 aut |
700 | 1 | a Mignot, C4 aut |
700 | 1 | a Mikati, MA4 aut |
700 | 1 | a Nava, C4 aut |
700 | 1 | a Raymond, FL4 aut |
700 | 1 | a Sampson, JR4 aut |
700 | 1 | a Sanchis-Juan, A4 aut |
700 | 1 | a Shashi, V4 aut |
700 | 1 | a Shieh, JTC4 aut |
700 | 1 | a Shinawi, M4 aut |
700 | 1 | a Slavotinek, A4 aut |
700 | 1 | a Stodberg, Tu Karolinska Institutet4 aut |
700 | 1 | a Stong, N4 aut |
700 | 1 | a Sullivan, JA4 aut |
700 | 1 | a Taylor, AC4 aut |
700 | 1 | a Toler, TL4 aut |
700 | 1 | a van den Boogaard, MJ4 aut |
700 | 1 | a van der Crabben, SN4 aut |
700 | 1 | a van Gassen, KLI4 aut |
700 | 1 | a van Jaarsveld, RH4 aut |
700 | 1 | a Van Ziffle, J4 aut |
700 | 1 | a Wadley, AF4 aut |
700 | 1 | a Wagner, M4 aut |
700 | 1 | a Wigby, K4 aut |
700 | 1 | a Wortmann, SB4 aut |
700 | 1 | a Zarate, YA4 aut |
700 | 1 | a Moller, RS4 aut |
700 | 1 | a Lemke, JR4 aut |
700 | 1 | a Platzer, Ku Leipzig University4 aut |
710 | 2 | a Leipzig Universityb Pediatrik, Lund4 org |
710 | 2 | a et al. |
773 | 0 | t Genetics in medicine : official journal of the American College of Medical Geneticsd : Elsevier BVg 23:4, s. 653-660q 23:4<653-660x 1530-0366 |
773 | 0 | t Genetics in Medicined : Elsevier BVg 23:4, s. 653-660q 23:4<653-660x 1098-3600 |
856 | 4 | u https://push-zb.helmholtz-muenchen.de/deliver.php?id=29106 |
856 | 4 | u http://dx.doi.org/10.1038/s41436-020-01020-wy FULLTEXT |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:145338504 |
856 | 4 8 | u https://doi.org/10.1038/s41436-020-01020-w |
856 | 4 8 | u https://lup.lub.lu.se/record/c32da16d-1785-46c0-bfe9-fe047c4b640d |
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