Contribution to carrier detection and genetic counselling in X linked retinoschisis.

Por Kaplan, J, Pelet, A, Hentati, H, Jeanpierre, M, Briard, M L, Journel, H, Munnich, A, Dufier, J L
Publicado em 1991

No evidence of genetic heterogeneity in dominant optic atrophy.

Por Bonneau, D, Souied, E, Gerber, S, Rozet, J M, D'Haens, E, Journel, H, Plessis, G, Weissenbach, J, Munnich, A, Kaplan, J
Publicado em 1995

Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays

Por Pasquier, L, Laugel, V, Lazaro, L, Dollfus, H, Journel, H, Edery, P, Goldenberg, A, Martin, D, Heron, D, Merrer, M Le, Rustin, P, Odent, S, Munnich, A, Sarasin, A, Cormier‐Daire, V
Publicado em 2006

Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation

Por GIRAUDEAU, F., TAINE, L., BIANCALANA, V., DELOBEL, B., JOURNEL, H., MISSIRIAN, C., LACOMBE, D., BONNEAU, D., PARENT, P., AUBERT, D., HAUCK, Y., CROQUETTE, M. F., TOUTAIN, A., MATTEI, M. G., LOISEAU, H. A., DAVID, A., VERGNAUD, G.
Publicado em 2001

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

Por de Lonlay, P, Seta, N, Barrot, S, Chabrol, B, Drouin, V, Gabriel, B, 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, J, Cormier-Daire, V
Publicado em 2001