7 results on '"Schreiber G"'
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2. C.P.2.04 Skipping of exon 16 in COL6A3 is a recurrent mutation causing severe congenital muscular dystrophy type Ullrich
3. G.P.4.14 Clinical variability in siblings with calpainopathy (LGMD2A)
4. C.P.2.08 Phenotype and long-term follow-up in juvenile patients with selenoprotein N-related myopathy (SEPN1-RM)
5. G.P.10.01 Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations
6. Transthyretin gene expression and function in choroid plexus
7. Structure and evolution of transthyretin
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