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Author/Creator Sigaudy, S

1. A study of new NEK8 mutations in patients with severe renal cystic hypodysplasia and ciliopathy-associated defects. Issue 1 (December 2015)

Authors:
Grampa, V; Delous, M; Silbermann, F; Oyde, G; Krug, P; Filhol, E; Alessandri, JL; Sigaudy, S; Bouvier, R; Zabot, MT; Antignac, C; Gubler, M; Attié-Bitach, T; Benmerah, A; Jeanpierre, C; Saunier, S
Journal:
Cilia
Issue:
Volume 4:Issue 1(2015)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. Issue 5 (27th January 2006)

Authors:
Kerr, B; Delrue, M-A; Sigaudy, S; Perveen, R; Marche, M; Burgelin, I; Stef, M; Tang, B; Eden, O B; O'Sullivan, J; De Sandre-Giovannoli, A; Reardon, W; Brewer, C; Bennett, C; Quarell, O; M'Cann, E; Donnai, D; Stewart, F; Hennekam, R; Cavé, H
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 5(2006)
Page Start:
401
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗