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Author/Creator Binquet, C

2. Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands. Issue 6 (29th February 2008)

Authors:
Faivre, L; Collod-Beroud, G; Child, A; Callewaert, B; Loeys, B L; Binquet, C; Gautier, E; Arbustini, E; Mayer, K; Arslan-Kirchner, M; Stheneur, C; Kiotsekoglou, A; Comeglio, P; Marziliano, N; Halliday, D; Beroud, C; Bonithon-Kopp, C; Claustres, M; Plauchu, H; Robinson, P N
Journal:
Journal of medical genetics
Issue:
Volume 45:Issue 6(2008)
Page Start:
384
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Do assisted reproductive technologies and in vitro embryo culture influence the epigenetic control of imprinted genes and transposable elements in children?. Issue 2 (15th December 2020)

Authors:
Barberet, J; Binquet, C; Guilleman, M; Doukani, A; Choux, C; Bruno, C; Bourredjem, A; Chapusot, C; Bourc'his, D; Duffourd, Y; Fauque, P
Journal:
Human reproduction
Issue:
Volume 36:Issue 2(2021)
Page Start:
479
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability. (18th March 2013)

Authors:
Callier, P; Aral, B; Hanna, N; Lambert, S; Dindy, H; Ragon, C; Payet, M; Collod‐Beroud, G; Carmignac, V; Delrue, MA; Goizet, C; Philip, N; Busa, T; Dulac, Y; Missotte, I; Sznajer, Y; Toutain, A; Francannet, C; Megarbane, A; Julia, S
Journal:
Clinical genetics
Issue:
Volume 84:Number 6(2013:Dec.)
Page Start:
507
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening. Issue 11 (29th June 2009)

Authors:
Thauvin-Robinet, C; Munck, A; Huet, F; Génin, E; Bellis, G; Gautier, E; Audrézet, M-P; Férec, C; Lalau, G; Georges, M Des; Claustres, M; Bienvenu, T; Gérard, B; Boisseau, P; Cabet-Bey, F; Feldmann, D; Clavel, C; Bieth, E; Iron, A; Simon-Bouy, B
Journal:
Journal of medical genetics
Issue:
Volume 46:Issue 11(2009)
Page Start:
752
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗