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Author/Creator Cavé, H

2. 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
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia. Issue 10 (12th June 2010)

Authors:
Pérez, B; Mechinaud, F; Galambrun, C; Ben Romdhane, N; Isidor, B; Philip, N; Derain-Court, J; Cassinat, B; Lachenaud, J; Kaltenbach, S; Salmon, A; Désirée, C; Pereira, S; Menot, M L; Royer, N; Fenneteau, O; Baruchel, A; Chomienne, C; Verloes, A; Cavé, H
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 10(2010)
Page Start:
686
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. Issue 11 (1st November 2004)

Authors:
Keren, B; Hadchouel, A; Saba, S; Sznajer, Y; Bonneau, D; Leheup, B; Boute, O; Gaillard, D; Lacombe, D; Layet, V; Marlin, S; Mortier, G; Toutain, A; Beylot, C; Baumann, C; Verloes, A; Cavé, H
Other Names:
group-author.
Journal:
Journal of medical genetics
Issue:
Volume 41:Issue 11(2004)
Page Start:
e117
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗