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Author/Creator Schwartz, C E

6. A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9). Issue 9 (1st September 2004)

Authors:
Ramser, J; Winnepenninckx, B; Lenski, C; Errijgers, V; Platzer, M; Schwartz, C E; Meindl, A; Kooy, R F
Journal:
Journal of medical genetics
Issue:
Volume 41:Issue 9(2004)
Page Start:
679
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

9. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. Issue 11 (15th July 2008)

Authors:
Koolen, D A; Sharp, A J; Hurst, J A; Firth, H V; Knight, S J L; Goldenberg, A; Saugier-Veber, P; Pfundt, R; Vissers, L E L M; Destrée, A; Grisart, B; Rooms, L; Van der Aa, N; Field, M; Hackett, A; Bell, K; Nowaczyk, M J M; Mancini, G M S; Poddighe, P J; Schwartz, C E
Journal:
Journal of medical genetics
Issue:
Volume 45:Issue 11(2008)
Page Start:
710
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

10. Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome. Issue 1 (19th September 2008)

Authors:
Lyons, M J; Graham, J M; Neri, G; Hunter, A G W; Clark, R D; Rogers, R C; Moscarda, M; Boccuto, L; Simensen, R; Dodd, J; Robertson, S; DuPont, B R; Friez, M J; Schwartz, C E; Stevenson, R E
Journal:
Journal of medical genetics
Issue:
Volume 46:Issue 1(2009)
Page Start:
9
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗