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Author/Creator Attié-Bitach, T

1. A study of new NEK8 mutations in patients with severe renal cystic hypodysplasia and ciliopathy-associated defects. Issue 1 (December 2015)

Authors:
Grampa, V; Delous, M; Silbermann, F; Oyde, G; Krug, P; Filhol, E; Alessandri, JL; Sigaudy, S; Bouvier, R; Zabot, MT; Antignac, C; Gubler, M; Attié-Bitach, T; Benmerah, A; Jeanpierre, C; Saunier, S
Journal:
Cilia
Issue:
Volume 4:Issue 1(2015)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome. Issue 5 (30th April 2004)

Authors:
Pinson, L; Augé, J; Audollent, S; Mattéi, G; Etchevers, H; Gigarel, N; Razavi, F; Lacombe, D; Odent, S; Le Merrer, M; Amiel, J; Munnich, A; Meroni, G; Lyonnet, S; Vekemans, M; Attié-Bitach, T
Journal:
Journal of medical genetics
Issue:
Volume 41:Issue 5(2004)
Page Start:
381
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy. Issue 1 (December 2015)

Authors:
Perrault, I; Halbritter, J; Porath, J; Gerard, X; Braun, D; Gee, H; Fathy, H; Saunier, S; Cormier-Daire, V; Thomas, S; Attié-Bitach, T; Boddaert, N; Taschner, M; Schueler, M; Lorentzen, E; Lifton, R; Otto, E; Bastin, P; Kaplan, J; Hildebrandt, F
Journal:
Cilia
Issue:
Volume 4:Issue 1(2015)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. Issue 3 (16th September 2005)

Authors:
Sanlaville, D; Etchevers, H C; Gonzales, M; Martinovic, J; Clément-Ziza, M; Delezoide, A-L; Aubry, M-C; Pelet, A; Chemouny, S; Cruaud, C; Audollent, S; Esculpavit, C; Goudefroye, G; Ozilou, C; Fredouille, C; Joye, N; Morichon-Delvallez, N; Dumez, Y; Weissenbach, J; Munnich, A
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 3(2006)
Page Start:
211
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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