학술논문
'학술논문'
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Academic Journal
Neuromuscular disorders : NMD. 20(6):422-7
Recessive mutations in KIAA1632 cause Vici syndrome, a multisystem disorder with defective autophagy
Academic Journal
CULLUP, T; ABBS, S; DIONISI-VICI, C; BERTINI, E; MCCLELLAND, V M; AL-OWAIN, M; KOERNER, C; HOFFMANN, G; WIJBURG, F; TEN HOEDT, A E; ROGERS, C; MANCHESTER, D; MIYATA, R; HAYASHI, S; INAZAWA, J; SAID, E; KROISEL, P; WINDPASSINGER, C; BODI, I; GOEBEL, H H; SEWRY, C A; MOHAMMED, S; JOSIFOVA, D; GAUTEL, M; JUNGBLUTH, H
Developmental Medicine & Child Neurology. Jan 01, 2012 54 Suppl 1:5-6
Academic Journal
Journal of Neurology, Neurosurgery & Psychiatry. Sep 01, 2011 82(9):1054-1057
Academic Journal
In Reproductive BioMedicine Online 2005 10 Supplement 2:35-35
Academic Journal
Chamberlain, J S; Chamberlain, J R; Fenwick, R G; Ward, P A; Caskey, C T; Dimnik, L S; Bech-Hansen, N T; Hoar, D I; Richards, S; Covone, A E; Govanni, R; Abbs, S; Bentley, D R; Bobrow, M; Rysiecki, G; Ray, P N; Boileau, C; Junien, C; Boehm, C; Venne, V L
Academic Journal
Muntoni, F; Gobbi, P; Sewry, C; Sherratt, T; Taylor, J; Sandhu, S K; Abbs, S; Roberts, R; Hodgson, S V; Bobrow, M
Journal of Medical Genetics; Nov1994, Vol. 31 Issue 11, p843-847, 5p, 1 Diagram, 2 Charts
Academic Journal
Glass, I A; Nicholson, L V; Watkiss, E; Johnson, M A; Roberts, R G; Abbs, S; Brittain-Jones, S; Boddie, H G
Journal of Medical Genetics; Aug1992, Vol. 29 Issue 8, p578-582, 5p
Academic Journal
Journal of Medical Genetics; May1991, Vol. 28 Issue 5, p304-311, 8p, 2 Black and White Photographs, 3 Charts, 1 Graph
Academic Journal
Journal of Medical Genetics; Nov1989, Vol. 26 Issue 11, p682-693, 12p, 1 Diagram, 4 Charts, 2 Graphs
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[AR] Abbs, S
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