• Submit
  • Personalize
    • Your alerts
    • Your lists
    • Your searches
  • Help
  • de
  • en
  • fr
  • it
  • guest :: login
Advanced Search
  • Search in fulltext
  • Save the selected filter for next search

Refine my results

Document type

  • Articles (2)

Institution

  • National (2)

Specific Collection

  • National Collections (2)

Language

  • English (2)

Author

  • Wolf, Nicole I. (2) disable the filter
  • Abbink, Truus E. M. (1)
  • Bakker, Ingrid M. C. (1)
  • Bala, Pronab (1)
  • Barić, Ivo (1)
  • Baumgartner, Matthias R. (1)
  • Blaser, Susan (1)
  • Bugiani, Marianna (1)
  • Calvert, Sophie (1)
  • Camuzeaux, Stephane S.M. (1)
  • Chong, W. Kling (1)
  • Clayton, Peter T. (1)
  • Das, Krishna B. (1)
  • Del Giudice, Ennio (1)
  • Feigenbaum, Annette (1)
  • Feillet, François (1)
  • Fisher, Laura (1)
  • Footitt, Emma J. (1)
  • Gissen, Paul (1)
  • Heutink, Peter (1)
  • Häberle, Johannes (1)
  • Kanhai, Warsha A. (1)
  • Kevelam, Sietske H. (1)
  • Livingston, John H. (1)
  • Maier, Oliver (1)
  • McWilliam, Robert (1)
  • Mills, Kevin A. (1)
  • Mills, Philippa B. (1)
  • Morel, Chantal F. (1)
  • Pitt, Matthew (1)
  • More Less

Domain

  • Medicine, Technology, Engineering (2)

Keyword

  • Original Articles (2)
  • SLC19A3 (1)
  • early infantile encephalopathy (1)
  • epilepsy (1)
  • magnetic resonance imaging (1)
  • pyridox(am)ine 5'-phosphate oxidase (PNPO) (1)
  • pyridoxal 5'-phosphate (PLP) (1)
  • pyridoxine (1)
  • seizures (1)
Sorted by: Date of deposit
  • Date of deposit
  • Title
  • Author

  • Ascending
  • Descending
2 results 1
Postprint
Consortium of Swiss Academic Libraries

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

Mills, Philippa B. ; Camuzeaux, Stephane S.M. ; Footitt, Emma J. ; Mills, Kevin A. ; Gissen, Paul ; Fisher, Laura ; Das, Krishna B. ; Varadkar, Sophia M. ; Zuberi, Sameer ; McWilliam, Robert ; Stödberg, Tommy ; Plecko, Barbara ; Baumgartner, Matthias R. ; Maier, Oliver ; Calvert, Sophie ; Riney, Kate ; Wolf, Nicole I. ; Livingston, John H. ; Bala, Pronab ; Morel, Chantal F. ; Feillet, François ; Raimondi, Francesco ; Del Giudice, Ennio ; Chong, W. Kling ; Pitt, Matthew ; Clayton, Peter T.

In: Brain, 2014, vol. 137, no. 5, p. 1350-1360

Postprint
Consortium of Swiss Academic Libraries

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

Kevelam, Sietske H. ; Bugiani, Marianna ; Salomons, Gajja S. ; Feigenbaum, Annette ; Blaser, Susan ; Prasad, Chitra ; Häberle, Johannes ; Barić, Ivo ; Bakker, Ingrid M. C. ; Postma, Nienke L. ; Kanhai, Warsha A. ; Wolf, Nicole I. ; Abbink, Truus E. M. ; Waisfisz, Quinten ; Heutink, Peter ; van der Knaap, Marjo S.

In: Brain, 2013, vol. 136, no. 5, p. 1534-1543

2 results 1
  • Home
  • Contact
  • RERO Explore
  • Powered by Invenio
  • / © Copyright RERO