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Search: WFRF:(Klockner C) > (2021) > De novo variants in...

  • Klockner, CLeipzig University (author)

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

  • Article/chapterEnglish2021

Publisher, publication year, extent ...

  • Elsevier BV,2021

Numbers

  • LIBRIS-ID:oai:prod.swepub.kib.ki.se:145338504
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:145338504URI
  • https://doi.org/10.1038/s41436-020-01020-wDOI
  • https://lup.lub.lu.se/record/c32da16d-1785-46c0-bfe9-fe047c4b640dURI

Supplementary language notes

  • Language:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Sticht, H (author)
  • Zacher, P (author)
  • Popp, B (author)
  • Babcock, HE (author)
  • Bakker, DP (author)
  • Barwick, K (author)
  • Bonfert, MV (author)
  • Bonnemann, CG (author)
  • Brilstra, EH (author)
  • Chung, WK (author)
  • Clarke, AJ (author)
  • Devine, P (author)
  • Donkervoort, S (author)
  • Lundgren, JohanLund 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 Hospital(Swepub:lu)pedi-jlu (author)
  • Friedman, J (author)
  • Gates, A (author)
  • Ghoumid, J (author)
  • Hobson, E (author)
  • Horvath, G (author)
  • Keller-Ramey, J (author)
  • Keren, B (author)
  • Kurian, MA (author)
  • Lee, V (author)
  • Leppig, KA (author)
  • Lundgren, J (author)
  • McDonald, MT (author)
  • McTague, A (author)
  • Mefford, HC (author)
  • Mignot, C (author)
  • Mikati, MA (author)
  • Nava, C (author)
  • Raymond, FL (author)
  • Sampson, JR (author)
  • Sanchis-Juan, A (author)
  • Shashi, V (author)
  • Shieh, JTC (author)
  • Shinawi, M (author)
  • Slavotinek, A (author)
  • Stodberg, TKarolinska Institutet (author)
  • Stong, N (author)
  • Sullivan, JA (author)
  • Taylor, AC (author)
  • Toler, TL (author)
  • van den Boogaard, MJ (author)
  • van der Crabben, SN (author)
  • van Gassen, KLI (author)
  • van Jaarsveld, RH (author)
  • Van Ziffle, J (author)
  • Wadley, AF (author)
  • Wagner, M (author)
  • Wigby, K (author)
  • Wortmann, SB (author)
  • Zarate, YA (author)
  • Moller, RS (author)
  • Lemke, JR (author)
  • Platzer, KLeipzig University (author)
  • Leipzig UniversityPediatrik, Lund (creator_code:org_t)
  • et al.

Related titles

  • In:Genetics in medicine : official journal of the American College of Medical Genetics: Elsevier BV23:4, s. 653-6601530-0366
  • In:Genetics in Medicine: Elsevier BV23:4, s. 653-6601098-3600

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