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Multi-exon deletions of the FBN1 gene in Marfan syndrome.
Liu W, Schrijver I, Brenn T, Furthmayr H, Francke U. Liu W, et al. Among authors: francke u. BMC Med Genet. 2001;2:11. doi: 10.1186/1471-2350-2-11. Epub 2001 Oct 24. BMC Med Genet. 2001. PMID: 11710961 Free PMC article.
Is Rett syndrome caused by a triplet repeat expansion?
Hofferbert S, Schanen NC, Budden SS, Francke U. Hofferbert S, et al. Among authors: francke u. Neuropediatrics. 1997 Jun;28(3):179-83. doi: 10.1055/s-2007-973697. Neuropediatrics. 1997. PMID: 9266557
Genetic heterogeneity in Laron syndrome.
Francke U, Berg MA. Francke U, et al. Acta Paediatr Suppl. 1993 Sep;82 Suppl 391:3-7; discussion 8. doi: 10.1111/j.1651-2227.1993.tb12916.x. Acta Paediatr Suppl. 1993. PMID: 8219474 Review. No abstract available.
Spectrum of MECP2 mutations in Rett syndrome.
Lee SS, Wan M, Francke U. Lee SS, et al. Among authors: francke u. Brain Dev. 2001 Dec;23 Suppl 1:S138-43. doi: 10.1016/s0387-7604(01)00339-4. Brain Dev. 2001. PMID: 11738860
516 results