Eléments de l'association
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List of bibliographic references
Number of relevant bibliographic references: 2.Ident. | Authors (with country if any) | Title |
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001041 | Mathilde Nizon [France] ; Yasemin Alanay [Turquie] ; Beyhan Tuysuz [Turquie] ; Pelin Ozlem Simsek Kiper [Turquie] ; David Genevieve [France] ; David Sillence [Australie] ; Celine Huber [France] ; Arnold Munnich [France] ; Valérie Cormier-Daire [France] | IMPAD1 Mutations in Two Catel-Manzke Like Patients |
001872 | Denise P. Cavalcanti [Brésil, France] ; Celine Huber [France] ; Kim-Hanh Le Quan Sang [France] ; Geneviève Baujat [France] ; Felicity Collins [Australie] ; Anne-Lise Delezoide [France] ; Nathalie Dagoneau [France] ; Martine Le Merrer [France] ; Jelena Martinovic [France] ; Marcos Fernando S. Mello [Brésil] ; Michel Vekemans [France] ; Arnold Munnich [France] ; Valerie Cormier-Daire [France] | Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum |
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