Arnold Munnich
AuthID: R-00F-HB0
11
TITLE: Identification of mutations in CUL7 in 3-M syndrome Full Text
AUTHORS: Huber, C; Dias Santagata, D; Glaser, A; O'Sullivan, J; Brauner, R; Wu, K; Xu, XS; Pearce, K; Wang, R; Uzielli, MLG; Dagoneau, N; Chemaitilly, W; Superti Furga, A; Dos Santos, H; Megarbane, A; Morin, G; Gillessen Kaesbach, G; Hennekam, R; Van der Burgt, I; Black, GCM; ...More
PUBLISHED: 2005, SOURCE: NATURE GENETICS, VOLUME: 37, ISSUE: 10
AUTHORS: Huber, C; Dias Santagata, D; Glaser, A; O'Sullivan, J; Brauner, R; Wu, K; Xu, XS; Pearce, K; Wang, R; Uzielli, MLG; Dagoneau, N; Chemaitilly, W; Superti Furga, A; Dos Santos, H; Megarbane, A; Morin, G; Gillessen Kaesbach, G; Hennekam, R; Van der Burgt, I; Black, GCM; ...More
PUBLISHED: 2005, SOURCE: NATURE GENETICS, VOLUME: 37, ISSUE: 10
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TITLE: Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis Full Text
AUTHORS: Hanein, S; Perrault, I; Gerber, S; Tanguy, G; Barbet, F; Ducroq, D; Calvas, P; Dollfus, H; Hamel, C; Lopponen, T; Munier, F; Santos, L; Shalev, S; Zafeiriou, D; Dufier, JL; Munnich, A; Rozet, JM; Kaplan, J;
PUBLISHED: 2004, SOURCE: HUMAN MUTATION, VOLUME: 23, ISSUE: 4
AUTHORS: Hanein, S; Perrault, I; Gerber, S; Tanguy, G; Barbet, F; Ducroq, D; Calvas, P; Dollfus, H; Hamel, C; Lopponen, T; Munier, F; Santos, L; Shalev, S; Zafeiriou, D; Dufier, JL; Munnich, A; Rozet, JM; Kaplan, J;
PUBLISHED: 2004, SOURCE: HUMAN MUTATION, VOLUME: 23, ISSUE: 4
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TITLE: Phenotypic variability at the TGF-β1 locus in Camurati-Engelmann disease Full Text
AUTHORS: Ana Campos-Xavier; Jorge M Saraiva; Ravi Savarirayan; Alain Verloes; Josué Feingold; Laurence Faivre; Arnold Munnich; Martine Le Merrer; Valérie Cormier-Daire;
PUBLISHED: 2001, SOURCE: Hum Genet - Human Genetics, VOLUME: 109, ISSUE: 6
AUTHORS: Ana Campos-Xavier; Jorge M Saraiva; Ravi Savarirayan; Alain Verloes; Josué Feingold; Laurence Faivre; Arnold Munnich; Martine Le Merrer; Valérie Cormier-Daire;
PUBLISHED: 2001, SOURCE: Hum Genet - Human Genetics, VOLUME: 109, ISSUE: 6
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TITLE: The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition Full Text
AUTHORS: Gerber, S; Rozet, JM; Takezawa, SI; dos Santos, LC; Lopes, L; Gribouval, O; Penet, C; Perrault, I; Ducroq, D; Souied, E; Jeanpierre, M; Romana, S; Frezal, J; Ferraz, F; Yu Umesono, R; Munnich, A; Kaplan, J;
PUBLISHED: 2000, SOURCE: HUMAN GENETICS, VOLUME: 107, ISSUE: 3
AUTHORS: Gerber, S; Rozet, JM; Takezawa, SI; dos Santos, LC; Lopes, L; Gribouval, O; Penet, C; Perrault, I; Ducroq, D; Souied, E; Jeanpierre, M; Romana, S; Frezal, J; Ferraz, F; Yu Umesono, R; Munnich, A; Kaplan, J;
PUBLISHED: 2000, SOURCE: HUMAN GENETICS, VOLUME: 107, ISSUE: 3
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