Gian Paolo, . et al. 0 Luiza L. P.; Rauch Shifteh; Saunders Doris A.; van der Linden - issue: Jenny C.; Telegrafi - volume: Aida; Thiffault - pages: Katharina; Syrbe.
L., . et al. 0 A. M.; Chelly with high lod scores - issue: - volume: - pages: extends over 2.1 Mb of genomic DNA. Restriction analysis of the YAC contig allowed us to map precisely the loci previously assigned to that chromosomal region and t.
the phenotype was clinically relevant with regard to the literature, . et al. 0 which prompted to sequence the second allele - issue: - volume: - pages: .
Nathalie, . et al. 0 Louis; Ville Marie-Christine; Keren Gaëtan; Doummar - issue: Clotilde; Whalen - volume: Sandra; Heron - pages: Laurent; Richelme.
the majority of CDKL5-mutated patients with the early-onset seizure variant, . et al. 0 and the majority of FOXG1-mutated patients with the congenital form. A computation of severity scores further revealed significant differences between groups of patients and correlation with mutation types. The highly detailed phenotypic information contained in the - issue: - volume: - pages: .
F o n t, . et al. 0 C o l l e a u x L . " G e n e . 1 9 9 9 J u l 2 2 ; 2 3 5 ( 1 - 2 ) : 4 3 - 5 0 . d o i : 1 0 . 1 0 1 6 / s 0 3 7 8 - 1 1 1 9 ( 9 9 ) 0 0 2 1 7 - 6 . " V i l l a r d L G e n e 1 9 9 9 2 3 / 0 7 / 1 9 9 9 1 0 . 1 0 1 6 / s 0 3 7 8 - 1 1 1 9 ( 9 9 ) 0 0 2 1 7 - 6 - issue: - volume: - pages: .
our patients confirm that ATP1A3 mutations are associated with a phenotype combining features of early-onset encephalopathy, . et al. 0 epilepsy and dystonic fits - issue: - volume: - pages: .
G i o v a n u c c i - U z i e l l i M L, . et al. 0 D e m i d o v a I A - issue: - volume: - pages: .
as well as the expression in human tissues, . et al. 0 suggests that this gene might be involved in neuronal differentiation. Among the different morbid phenotypes assigned to the region - issue: - volume: - pages: .