Published in J Hum Genet on August 04, 2011
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Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome. Am J Hum Genet (2010) 1.18
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The immunoconjugate "icon" targets aberrantly expressed endothelial tissue factor causing regression of endometriosis. Am J Pathol (2009) 1.06
A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. Hum Mutat (2008) 1.06
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Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. Hum Mutat (2005) 1.03
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Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation. Am J Med Genet A (2008) 0.98
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. J Neurol (2009) 0.98
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Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia. Br J Haematol (2009) 0.96
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