Search

Author/Creator Guipponi, M

1. 412 Combination of Genomic Technologies and Consanguinity in Order to Identify Pathogenic Variants in Recessive Disorders. (October 2012)

Authors:
Makrythanasis, P; Nelis, M; Santoni, FA; Guipponi, M; Béna, F; Vanier, A; Duriaux-Sail, G; Gimelli, S; Stathaki, E; Falconnet, E; Temtamy, S; Megarbane, A; Aglan, M; Zaki, M; Fokstuen, S; Bottani, A; Masri, A; Psoni, S; Kitsiou, S; Frissyra, H
Journal:
Archives of disease in childhood
Issue:
Volume 97(2012)Supplement 2
Page Start:
A121
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Association of the connexin36 gene with juvenile myoclonic epilepsy. Issue 7 (2nd July 2004)

Authors:
Mas, C; Taske, N; Deutsch, S; Guipponi, M; Thomas, P; Covanis, A; Friis, M; Kjeldsen, M J; Pizzolato, G P; Villemure, J-G; Buresi, C; Rees, M; Malafosse, A; Gardiner, M; Antonarakis, S E; Meda, P
Journal:
Journal of medical genetics
Issue:
Volume 41:Issue 7(2004)
Page Start:
e93
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗