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Author/Creator Jaubert, F

1. ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. Issue 11 (3rd August 2010)

Authors:
Bellanné-Chantelot, C; Saint-Martin, C; Ribeiro, M-J; Vaury, C; Verkarre, V; Arnoux, J-B; Valayannopoulos, V; Gobrecht, S; Sempoux, C; Rahier, J; Fournet, J-C; Jaubert, F; Aigrain, Y; Nihoul-Fékété, C; de Lonlay, P
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 11(2010)
Page Start:
752
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Congenital hyperinsulinism and mosaic abnormalities of the ploidy. Issue 3 (20th July 2005)

Authors:
Giurgea, I; Sanlaville, D; Fournet, J-C; Sempoux, C; Bellanné-Chantelot, C; Touati, G; Hubert, L; Groos, M-S; Brunelle, F; Rahier, J; Henquin, J-C; Dunne, M J; Jaubert, F; Robert, J-J; Nihoul-Fékété, C; Vekemans, M; Junien, C; de Lonlay, P
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 3(2006)
Page Start:
248
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Deletion of 9p associated with gonadal dysfunction in 46, XY but not in 46, XX human fetuses. Issue 7 (1st July 2002)

Authors:
Vialard, F; Ottolenghi, C; Gonzales, M; Choiset, A; Girard, S; Siffroi, J P; McElreavey, K; Vibert-Guigue, C; Sebaoun, M; Joyé, N; Portnoï, M F; Jaubert, F; Fellous, M
Journal:
Journal of medical genetics
Issue:
Volume 39:Issue 7(2002)
Page Start:
514
Record Type:
Journal Article
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6. Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus. Issue 5 (27th January 2006)

Authors:
de Pontual, L; Pelet, A; Trochet, D; Jaubert, F; Espinosa-Parrilla, Y; Munnich, A; Brunet, J-F; Goridis, C; Feingold, J; Lyonnet, S; Amiel, J
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 5(2006)
Page Start:
419
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗