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Author/Creator Hurst, J A

4. 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
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5. Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. Issue 3 (1st March 2001)

Authors:
de Vries, B B A; White, S M; Knight, S J L; Regan, R; Homfray, T; Young, I D; Super, M; McKeown, C; Splitt, M; Quarrell, O W J; Trainer, A H; Niermeijer, M F; Malcolm, S; Flint, J; Hurst, J A; Winter, R M
Journal:
Journal of medical genetics
Issue:
Volume 38:Issue 3(2001)
Page Start:
145
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

9. Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. Issue 1 (1st July 2009)

Authors:
Vega, H; Trainer, A H; Gordillo, M; Crosier, M; Kayserili, H; Skovby, F; Uzielli, M L Giovannucci; Schnur, R E; Manouvrier, S; Blair, E; Hurst, J A; Forzano, F; Meins, M; Simola, K O J; Raas-Rothschild, A; Hennekam, R C M; Jabs, E Wang
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 1(2010)
Page Start:
30
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

10. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. Issue 10 (October 1997)

Authors:
Ryan, A K; Goodship, J A; Wilson, D I; Philip, N; Levy, A; Seidel, H; Schuffenhauer, S; Oechsler, H; Belohradsky, B; Prieur, M; Aurias, A; Raymond, F L; Clayton-Smith, J; Hatchwell, E; McKeown, C; Beemer, F A; Dallapiccola, B; Novelli, G; Hurst, J A; Ignatius, J
Journal:
Journal of medical genetics
Issue:
Volume 34:Issue 10(1997)
Page Start:
798
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗