Search Results - VUILLAUMIER-BARRO..., S

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  1. 1
    Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion

    Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion by Schollen, E, Kjaergaard, S, Martinsson, T, Vuillaumier-Barro..., S, Dunoe, M, Keldermans, L, Seta, N, Matthijs, G

    Published 2004
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  2. 2
    Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism

    Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism by CORMIER-DAIRE, V, AMIEL, J, VUILLAUMIER-BARRO..., S, TAN, J, DURAND, G, MUNNICH, A, LE MERRER, M, SETA, N

    Published 2000
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  3. 3
    Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients

    Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients by Vuillaumier-Barro..., S., Hetet, G., Barnier, A., Dupre, T., Cuer, M., de Lonlay, P., Cormier-Daire, V., Durand, G., Grandchamp, B., Seta, N.

    Published 2000
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  4. 4
    Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib

    Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib by Vuillaumier-Barro..., S, Le Bizec, C, de Lonlay, P, Barnier, A, Mitchell, G, Pelletier, V, Prevost, C, Saudubray, J, Durand, G, Seta, N

    Published 2002
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