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La ricerca find articoli where authors phrase all words ' Barrot, S' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 11 riferimenti
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    1. Vuillaumier-Barrot, S; Le Bizec, C; Durand, G; Seta, N
      The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic

      JOURNAL OF HUMAN GENETICS
    2. de Lonlay, P; Seta, N; Barrot, S; Chabrol, B; Drouin, V; Gabriel, BM; Journel, H; Kretz, M; Laurent, J; Le Merrer, M; Leroy, A; Pedespan, D; Sarda, P; Villeneuve, N; Schmitz, J; van Schaftingen, E; Matthijs, G; Jaeken, J; Korner, C; Munnich, A; Saudubray, JM; Cormier-Daire, V
      A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

      JOURNAL OF MEDICAL GENETICS
    3. Dupre, T; Cuer, M; Barrot, S; Barnier, A; Cormier-Daire, V; Munnich, A; Durand, G; Seta, N
      Congenital disorder of glycosylation ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern

      CLINICAL CHEMISTRY
    4. Matthijs, G; Schollen, E; Bjursell, C; Erlandson, A; Freeze, H; Imtiaz, F; Kjaergaard, S; Martinsson, T; Schwartz, M; Seta, N; Vuillaumier-Barrot, S; Westphal, V; Winchester, B
      Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

      HUMAN MUTATION
    5. de Lonlay, P; Cormier-Daire, V; Vuillaumier-Barrot, S; Cuer, M; Durand, G; Munnich, A; Saudubray, JM; Seta, N
      "Carbohydrate-deficient glycoprotein" syndrome.

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

      JOURNAL OF MEDICAL GENETICS
    7. Cormier-Daire, V; Amiel, J; Vuillaumier-Barrot, S; Tan, J; Durand, G; Munnich, A; Le Merrer, M; Seta, N
      Congenital disorders of glycosylation IIa cause growth retardation, mentalretardation, and facial dysmorphism

      JOURNAL OF MEDICAL GENETICS
    8. Henrion, D; Benessiano, J; Philip, I; Vuillaumier-Barrot, S; Iglarz, M; Plantefeve, G; Chatel, D; Hvass, U; Durand, G; Desmonts, JM; Amouyel, P; Levy, BI
      The deletion genotype of the angiotensin I-converting enzyme is associatedwith an increased vascular reactivity in vivo and in vitro

      JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
    9. de Lonlay, P; Cuer, M; Vuillaumier-Barrot, S; Beaune, G; Castelnau, P; Kretz, M; Durand, G; Saudubray, JM; Seta, N
      Hypersulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose

      JOURNAL OF PEDIATRICS
    10. Cuer, M; Barrot, S; Jaureguy, F; Manene, D; Durand, G; Le Moel, G
      The plasma homocysteine/creatinine ratio can be used to study the implication of (C677T) MTHFR genetic variants in homocysteine homeostasis

      CLINICAL CHEMISTRY
    11. Philip, I; Plantefeve, G; Vuillaumier-Barrot, S; Vicaut, E; LeMarie, C; Henrion, D; Poirier, O; Levy, BI; Desmonts, JM; Durand, G; Benessiano, J
      G894T polymorphism in the endothelial nitric oxide synthase gene is associated with an enhanced vascular responsiveness to phenylephrine

      CIRCULATION


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 16/01/21 alle ore 11:04:40