Publications by authors named "Raffaella Smith"

20Publications

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Nat Genet 2009 May 19;41(5):535-43. Epub 2009 Apr 19.

Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2872007PMC
May 2009

Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders.

Neuromuscul Disord 2008 Aug 7;18(8):606-9. Epub 2008 Jul 7.

Institute for Neuromuscular Research, The Children's Hospital at Westmead, Sydney, Australia.

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http://dx.doi.org/10.1016/j.nmd.2008.05.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2873833PMC
August 2008

Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes.

Hum Genet 2008 Jun 11;123(5):469-76. Epub 2008 Apr 11.

McDermott Center for Human Growth and Development, The University of Texas Southwestern Medical School, 5323 Harry Hines Boulevard, Dallas, TX 75390-8591, USA.

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http://dx.doi.org/10.1007/s00439-008-0498-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2714970PMC
June 2008