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Presence of the R1748X mutation in the NF1 gene in a Brazilian patient with ectropion uveae
(Karger, 2004-01-01)
Congenital ectropion uveae is a rare, nonprogressive anomaly characterized by the presence of iris pigment epithelium on the anterior surface of the iris stroma and is occasionally associated with Rieger's anomaly, ...
Mutation in Honeybees 2. Average Rate of Mutation Based on Seven Genes for Eye Colour
(1983-01-01)
The average numbers of ommatidia in the eyes of workers was 3826 and in the eyes of males 7082. Somatic mutations from recessive to dominant were detected in 7 genes, some reported in this paper, some in an earlier ...
Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption
(2013-06-17)
Objectives: Primary failure of tooth eruption (PFE) is a rare autosomal-dominant disease characterized by severe lateral open bite as a consequence of incomplete eruption of posterior teeth. Heterozygous mutations in the ...
Analysis of 5382insC (BRCA1) and 6174delT (BRCA2) mutations in 382 healthy Chilean women with a family history of breast cancer
(Sociedad de Biología de Chile, 2002)
Newborn hearing screening and genetic testing in 8974 Brazilian neonates
(Elsevier Ireland LtdClareIrlanda, 2010)