5 results for author:"Spence J.E." in Literature citations
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| Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations. Rosenfeld J.A., Leppig K., Ballif B.C., Thiese H., Erdie-Lalena C., Bawle E., Sastry S., Spence J.E., Bandholz A., Surti U. et al. Genet. Med. 11:797-805(2009) · Mapped (15) |
| Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. Johnston J.J., Olivos-Glander I., Turner J., Aleck K., Bird L.M., Mehta L., Schimke R.N., Heilstedt H., Spence J.E., Blancato J. et al. Am. J. Med. Genet. A 123A:236-242(2003) · Mapped (2) |
| Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. Brown C.A., Lanning R.W., McKinney K.Q., Salvino A.R., Cherniske E., Crowe C.A., Darras B.T., Gominak S., Greenberg C.R., Grosmann C. et al. Am. J. Med. Genet. 102:359-367(2001) · UniProtKB (1) |
| Human serum biotinidase. cDNA cloning, sequence, and characterization. Cole H., Reynolds T.R., Lockyer J.M., Buck G.A., Denson T., Spence J.E., Hymes J., Wolf B. J. Biol. Chem. 269:6566-6570(1994) · UniProtKB (1) |
| Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. Maddalena A., Spence J.E., O'Brien W.E., Nussbaum R.L. J. Clin. Invest. 82:1353-1358(1988) · UniProtKB (1) |