1. AHRO : Austin Health Research Online

Samuel F Berkovic

View Statistics Email Alert RSS Feed
 Claim profile

Profile

Loading... 2 0 20 0 false
Credit Name
Samuel F Berkovic
Full Name
Berkovic, Samuel F
 
Department
 
ORCID
Loading... 3 0 20 0 false

Publications

Refined By:
Author:  Bahlo, Melanie
Subject:  Humans

Results 1-4 of 4 (Search time: 0.005 seconds).

Publication YearTitleAuthor(s)
116-Apr-2013Autosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26.Klein, Karl Martin; Bromhead, Catherine J; Smith, Katherine R; O'Callaghan, Christopher J ; Corcoran, Susan J; Heron, Sarah E; Iona, Xenia; Hodgson, Bree L; McMahon, Jacinta M; Lawrence, Kate M; Scheffer, Ingrid E ; Dibbens, Leanne M; Bahlo, Melanie; Berkovic, Samuel F 
228-Feb-2013'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.Boissé Lomax, Lysa; Bayly, Marta A; Hjalgrim, Helle; Møller, Rikke S; Vlaar, Annemarie M; Aaberg, Kari M; Marquardt, Iris; Gandolfo, Luke C; Willemsen, Michèl; Kamsteeg, Erik-Jan; O'Sullivan, John D; Korenke, G Christoph; Bloem, Bastiaan R; de Coo, Irenaeus F; Verhagen, Judith M A; Said, Ines; Prescott, Trine; Stray-Pedersen, Asbjørg; Rasmussen, Magnhild; Vears, Danya F; Lehesjoki, Anna-Elina; Corbett, Mark A; Bahlo, Melanie; Gecz, Jozef; Dibbens, Leanne M; Berkovic, Samuel F 
35-May-2011Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.Arsov, Todor; Smith, Katherine R; Damiano, John Anthony; Franceschetti, Silvana; Canafoglia, Laura; Bromhead, Catherine J; Andermann, Eva; Vears, Danya F; Cossette, Patrick; Rajagopalan, Sulekha; McDougall, Alan; Sofia, Vito; Farrell, Michael; Aguglia, Umberto; Zini, Andrea; Meletti, Stefano; Morbin, Michela; Mullen, Saul A ; Andermann, Frederick; Mole, Sara E; Bahlo, Melanie; Berkovic, Samuel F 
428-Feb-2008Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.Berkovic, Samuel F ; Dibbens, Leanne M; Oshlack, Alicia; Silver, Jeremy D; Katerelos, Marina ; Vears, Danya F; Lüllmann-Rauch, Renate; Blanz, Judith; Zhang, Ke Wei; Stankovich, Jim; Kalnins, Renate M; Dowling, John P; Andermann, Eva; Andermann, Frederick; Faldini, Enrico; D'Hooge, Rudi; Vadlamudi, Lata; Macdonell, Richard A L ; Hodgson, Bree L; Bayly, Marta A; Savige, Judy A; Mulley, John C; Smyth, Gordon K; Power, David Anthony; Saftig, Paul; Bahlo, Melanie