Refine your research by the most used items
Author / Editor
- Morris, Michael Andréw (3)
- Bottani, Armand (2)
- Burkhard, Pierre (2)
- Horvath, Judit (2)
- Aliferis, Konstantinos (1)
- Antonarakis, Stylianos (1)
- Bena, Frédérique (1)
- Cerny, Andreas (1)
- Chouery, E. (1)
- Corbani, S. (1)

Document type
Full text accessibility
Full text version
Subject
Highlights
Show items per page
Title | Authors / Editors | Date | |
---|---|---|---|
![]() |
A heterozygous ABCB4, RUNDC3B, and ABCB1 deletion associated with severe cholestatic liver diseasadulthood | Terziroli Beretta-Piccoli, Benedetta; Thompson, Richard; Foskett, Pierre; Cerny, Andreas; ... Morris, Michael | 2019 |
![]() |
De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features | Makrythanasis, Periklis; Moix, Isabelle; Gimelli, Stefania; Fluss, Joel Victor; ... Bottani, Armand | 2010 |
![]() |
Molecular analysis of F8 in Lebanese haemophilia A patients: novel mutations and phenotype-genotype correlation | Djambas Khayat, C.; Salem, N.; Chouery, E.; Corbani, S.; ... Mégarbané, A. | 2008 |
![]() |
Expanding the phenotype of fragile X-associated tremor/ataxia syndrome: a new female case | Horvath, Judit; Burkhard, Pierre; Morris, Michael Andréw; Bottani, Armand; ... Delavelle, Jacqueline | 2007 |
![]() |
Phenotypic heterogeneity of dopa-responsive dystonia in monozygotic twins | Grötzsch, H; Schnorf, H; Morris, M A; Moix, Isabelle; ... Burkhard, Pierre | 2004 |