1. Achondroplasia in sibs of normal parents. Issue 12 (December 1988) Authors: Philip, N; Auger, M; Mattei, J F; Giraud, F Journal: Journal of medical genetics Issue: Volume 25:Issue 12(1988) Page Start: 857 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes. Issue 3 (2nd March 2005) Authors: Aubourg, P; Krahn, M; Bernard, R; Nguyen, K; Forzano, O; Boccaccio, I; Delague, V; De Sandre-Giovannoli, A; Pouget, J; Depétris, D; Mattei, M-G; Philip, N; Lévy, N Journal: Journal of medical genetics Issue: Volume 42:Issue 3(2005) Page Start: 253 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations. Issue 12 (16th November 2009) Authors: Solé, G; Coupry, I; Rooryck, C; Guérineau, E; Martins, F; Devés, S; Hubert, C; Souakri, N; Boute, O; Marchal, C; Faivre, L; Landré, E; Debruxelles, S; Dieux-Coeslier, A; Boulay, C; Chassagnon, S; Michel, V; Routon, M-C; Toutain, A; Philip, N Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 80:Issue 12(2009) Page Start: 1394 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p. Issue 3 (March 1995) Authors: Moncla, A; Philip, N; Mattei, J F Journal: Journal of medical genetics Issue: Volume 32:Issue 3(1995) Page Start: 245 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases. Issue 3 (1st March 2003) Authors: Cormier-Daire, V; Delezoide, A L; Philip, N; Marcorelles, P; Casas, K; Hillion, Y; Faivre, L; Rimoin, D L; Munnich, A; Maroteaux, P; Le Merrer, M Journal: Journal of medical genetics Issue: Volume 40:Issue 3(2003) Page Start: 195 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Costello syndrome. Issue 3 (March 1998) Authors: Philip, N; Sigaudy, S Journal: Journal of medical genetics Issue: Volume 35:Issue 3(1998) Page Start: 238 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. 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 View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study. Issue 5 (May 1991) Authors: Verloes, A; Aymé, S; Gambarelli, D; Gonzales, M; Le Merrer, M; Mulliez, N; Philip, N; Roume, J Journal: Journal of medical genetics Issue: Volume 28:Issue 5(1991) Page Start: 297 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Impact of prenatal diagnosis by ultrasound on the prevalence of congenital anomalies at birth in southern France. Issue 3 (June 1994) Authors: Julian-Reynier, C; Philip, N; Scheiner, C; Aurran, Y; Chabal, F; Maron, A; Gombert, A; Aymé, S Journal: Journal of epidemiology and community health Issue: Volume 48:Issue 3(1994) Page Start: 290 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗