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source DB source ID text size # proj. # Ann.
PubMed 9973276 Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism. Germ-line and somatic 1.51 KB 4 6 show
PubMed 9950359 Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R 1.3 KB 3 4 show
PubMed 9950243 Polymorphisms in the DNA repair gene XPD: correlations with risk and age at onset of basal cell carc 1.71 KB 3 3 show
PubMed 9935177 MEN1 gene mutation analysis of sporadic adrenocortical lesions. To clarify the role of the MEN1 gene 1.88 KB 3 2 show
PubMed 9932968 A lack of the R406W tau mutation in progressive supranuclear palsy and corticobasal degeneration. Li 686 Bytes 3 5 show
PubMed 9932941 Involvement of the spinal posterior horn in Gerstmann-Sträussler-Scheinker disease (PrP P102L). OBJE 1.31 KB 6 2 show
PubMed 9931538 Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein def 552 Bytes 10 4 show
PubMed 9931344 A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive se 1.38 KB 3 2 show
PubMed 9931337 Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal 1.75 KB 3 5 show
PubMed 9930165 A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of 1.64 KB 10 2 show