7 results for author:"Stone D.L." in Literature citations
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| An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. Aksentijevich I., Masters S.L., Ferguson P.J., Dancey P., Frenkel J., van Royen-Kerkhoff A., Laxer R., Tedgard U., Cowen E.W., Pham T.H. et al. N. Engl. J. Med. 360:2426-2437(2009) · UniProtKB (1) · Mapped (1) |
| Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Stone D.L., Slavotinek A.M., Bouffard G.G., Banerjee-Basu S., Baxevanis A.D., Barr M., Biesecker L.G. |
| Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Koprivica V., Stone D.L., Park J.K., Callahan M., Frisch A., Cohen I.J., Tayebi N., Sidransky E. Am. J. Hum. Genet. 66:1777-1786(2000) · UniProtKB (1) |
| Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Stone D.L., Tayebi N., Orvisky E., Stubblefield B., Madike V., Sidransky E. Hum. Mutat. 15:181-188(2000) · UniProtKB (1) |
| Type 2 Gaucher disease: an expanding phenotype. Tayebi N., Stone D.L., Sidransky E. Mol. Genet. Metab. 68:209-219(1999) · UniProtKB (1) |
| Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? Stone D.L., van Diggelen O.P., de Klerk J.B.C., Gaillard J.L.J., Niermeijer M.F., Willemsen R., Tayebi N., Sidransky E. Eur. J. Hum. Genet. 7:505-509(1999) · UniProtKB (1) |
| Molecular cloning and sequencing of a rat preprogastrin complementary deoxyribonucleic acid. Fuller P.J., Stone D.L., Brand S.J. Mol. Endocrinol. 1:306-311(1987) · UniProtKB (1) |