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