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Page 1
[Joubert's syndrome].
Buissonnière RF, Storni V, Robain O, Ponsot G. Buissonnière RF, et al. Ann Pediatr (Paris). 1990 Mar;37(3):151-6. Ann Pediatr (Paris). 1990. PMID: 2190521 Review. French.
[Delayed cortical hyperostosis in children].
de Boissieu D, Buissonnière RF, Ponsot G, Sellier N, Maroteaux P. de Boissieu D, et al. Among authors: buissonniere rf. Arch Fr Pediatr. 1989 Jun-Jul;46(6):439-42. Arch Fr Pediatr. 1989. PMID: 2675794 Review. French.
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
Schiff M, Roda C, Monin ML, Arion A, Barth M, Bednarek N, Bidet M, Bloch C, Boddaert N, Borgel D, Brassier A, Brice A, Bruneel A, Buissonnière R, Chabrol B, Chevalier MC, Cormier-Daire V, De Barace C, De Maistre E, De Saint-Martin A, Dorison N, Drouin-Garraud V, Dupré T, Echenne B, Edery P, Feillet F, Fontan I, Francannet C, Labarthe F, Gitiaux C, Héron D, Hully M, Lamoureux S, Martin-Coignard D, Mignot C, Morin G, Pascreau T, Pincemaille O, Polak M, Roubertie A, Thauvin-Robinet C, Toutain A, Viot G, Vuillaumier-Barrot S, Seta N, De Lonlay P. Schiff M, et al. J Med Genet. 2017 Dec;54(12):843-851. doi: 10.1136/jmedgenet-2017-104903. Epub 2017 Sep 27. J Med Genet. 2017. PMID: 28954837 Review.