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Browsing byAuthorBuckley, M
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Issue Date
Title
Author(s)
2018-03-01
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness
Palmer, EE
;
Schofield, D
;
Shrestha, R
;
Kandula, T
;
Macintosh, R
;
Lawson, JA
;
Andrews, I
;
Sampaio, H
;
Johnson, AM
;
Farrar, MA
;
Cardamone, M
;
Mowat, D
;
Elakis, G
;
Lo, W
;
Zhu, Y
;
Ying, K
;
Morris, P
;
Tao, J
;
Dias, KR
;
Buckley, M
;
Dinger, ME
;
Cowley, MJ
;
Roscioli, T
;
Kirk, EP
;
Bye, A
;
Sachdev, RK
2019-09-01
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications
Ewans, LJ
;
Colley, A
;
Gaston-Massuet, C
;
Gualtieri, A
;
Cowley, MJ
;
McCabe, MJ
;
Anand, D
;
Lachke, SA
;
Scietti, L
;
Forneris, F
;
Zhu, Y
;
Ying, K
;
Walsh, C
;
Kirk, EP
;
Miller, D
;
Giunta, C
;
Sillence, D
;
DInger, M
;
Buckley, M
;
Roscioli, T