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pro vyhledávání: '"C F, Boerkoel"'
Publikováno v:
Journal of dental research. 98(8)
Amelogenesis imperfecta (AI) is a group of genetic disorders of defective dental enamel. Mutation of
Publikováno v:
Annals of the New York Academy of Sciences. 883:22-35
As the best characterized human genomic disorders, 118 CMT1A and HNPP illustrate several common mechanistic features of genomic rearrangements. These features include the following: (1) Recombination occurs between homologous sequences flanking the d
Publikováno v:
American journal of medical genetics. 78(2)
Schimke immunoosseous dysplasia (SID) is an autosomal recessive spondyloepiphyseal dysplasia that was first described by Schimke et al. [1971: Lancet 2:1088-1089]. It is associated with premature arteriosclerosis and cerebral ischemia; however, the c