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Search Results - Bizec, Christiane Le
Search Results - Bizec, Christiane Le
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From splitting GLUT1 deficiency syndromes to overlapping phenotypes
by
Hully, Marie
,
Vuillaumier-Barrot, Sandrine
,
Le Bizec, Christiane
,
Boddaert, Nathalie
,
Kaminska, Anna
,
Lascelles, Karine
,
de Lonlay, Pascale
,
Cances, Claude
,
des Portes, Vincent
,
Roubertie, Agathe
,
Doummar, Diane
,
LeBihannic, Anne
,
Degos, Bertrand
,
de Saint Martin, Anne
,
Flori, Elisabeth
,
Pedespan, Jean Michel
,
Goldenberg, Alice
,
Vanhulle, Catherine
,
Bekri, Soumeya
,
Roubergue, Anne
,
Heron, Bénédicte
,
Cournelle, Marie-Anne
,
Kuster, Alice
,
Chenouard, Alexis
,
Loiseau, Marie-Noelle
,
Valayannopoulos, Vassili
,
Chemaly, Nicole
,
Gitiaux, Cyril
,
Seta, Nathalie
,
Bahi-Buisson, Nadia
Published in
European journal of medical genetics
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Identification of roles for peptide: N-glycanase and endo-beta-N-acetylglucosaminidase (Engase1p) during protein N-glycosylation in human HepG2 cells
by
Chantret, Isabelle
,
Fasseu, Magali
,
Zaoui, Karim
,
Le Bizec, Christiane
,
Sadou Yayé, Hassane
,
Dupré, Thierry
,
Moore, Stuart E H
Published in
PloS one
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A new insight into PMM2 mutations in the French population
by
Le Bizec, Christiane
,
Vuillaumier-Barrot, Sandrine
,
Barnier, Anne
,
Dupré, Thierry
,
Durand, Geneviève
,
Seta, Nathalie
Published in
Human mutation
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Expanding the Spectrum of PMM2-CDG Phenotype
by
Vuillaumier-Barrot, Sandrine
,
Isidor, Bertrand
,
Dupré, Thierry
,
Le Bizec, Christiane
,
David, Albert
,
Seta, Nathalie
Published in
JIMD Reports - Case and Research Reports, 2012/2
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Identification of a IVS4 -58delATG polymorphism in the human phosphomannomutase 2 (PMM2) gene
by
Vuillaumier-Barrot, Sandrine
,
Bizec, Christiane Le
,
Durand, Geneviève
,
Grandchamp, Bernard
,
Seta, Nathalie
Published in
Human mutation
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Identification of Roles for Peptide: N-Glycanase and Endo-[beta]-N-Acetylglucosaminidase during Protein N-Glycosylation in Human HepG2 Cells
by
Chantret, Isabelle
,
Fasseu, Magali
,
Zaoui, Karim
,
Le Bizec, Christiane
,
Sadou Yayé, Hassane
,
Dupré, Thierry
,
Moore, Stuart E. H
Published in
PloS one
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Identification of Roles for Peptide: N-Glycanase and Endo-[beta]-N-Acetylglucosaminidase
by
Chantret, Isabelle
,
Fasseu, Magali
,
Zaoui, Karim
,
Le Bizec, Christiane
,
Sadou Yayé, Hassane
,
Dupré, Thierry
,
Moore, Stuart E. H
Published in
PloS one
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A new insight into PMM2 mutations in the French population: MUTATIONS IN BRIEF
by
Le Bizec, Christiane
,
Vuillaumier-Barrot, Sandrine
,
Barnier, Anne
,
Dupré, Thierry
,
Durand, Geneviève
,
Seta, Nathalie
Published in
Human mutation
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PMM2 intronic branch-site mutations in CDG-Ia
by
Vuillaumier-Barrot, Sandrine
,
Le Bizec, Christiane
,
De Lonlay, Pascale
,
Madinier-Chappat, Nathalie
,
Barnier, Anne
,
Dupré, Thierry
,
Durand, Geneviève
,
Seta, Nathalie
Published in
Molecular genetics and metabolism
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