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Results: 1-2 |
Results: 2

Authors: Drouin-Garraud, V Belgrand, M Grunewald, S Seta, N Dacher, JN Henocq, A Matthijs, G Cormier-Daire, V Frebourg, T Saugier-Veber, P
Citation: V. Drouin-garraud et al., Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling, AM J MED G, 101(1), 2001, pp. 46-49

Authors: Marlin, S Blanchard, S Slim, R Lacombe, D Denoyelle, F Alessandri, JL Calzolari, E Drouin-Garraud, V Ferraz, FG Fourmaintraux, A Philip, N Toublanc, JE Petit, C
Citation: S. Marlin et al., Townes-Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient, HUM MUTAT, 14(5), 1999, pp. 377-386
Risultati: 1-2 |