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Author/Creator Philip, N

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
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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
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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
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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
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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
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