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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
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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
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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
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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
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Phenotypic heterogeneity of dopa-responsive dystonia in monozygotic twins Grötzsch, H; Schnorf, H; Morris, M A; Moix, Isabelle; ... Burkhard, Pierre 2004