7 results for author:"Shorer Z." in Literature citations
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| Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. Feinstein M., Markus B., Noyman I., Shalev H., Flusser H., Shelef I., Liani-Leibson K., Shorer Z., Cohen I., Khateeb S. et al. Am. J. Hum. Genet. 87:820-828(2010) · UniProtKB (1) |
| Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations. Cox J.J., Sheynin J., Shorer Z., Reimann F., Nicholas A.K., Zubovic L., Baralle M., Wraige E., Manor E., Levy J. et al. Hum. Mutat. 31:E1670-E1686(2010) · UniProtKB (1) · Mapped (3) |
| Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. Barel O., Shalev S.A., Ofir R., Cohen A., Zlotogora J., Shorer Z., Mazor G., Finer G., Khateeb S., Zilberberg N. et al. Am. J. Hum. Genet. 83:193-199(2008) · UniProtKB (1) |
| Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. Barel O., Shorer Z., Flusser H., Ofir R., Narkis G., Finer G., Shalev H., Nasasra A., Saada A., Birk O.S. Am. J. Hum. Genet. 82:1211-1216(2008) · UniProtKB (1) · Mapped (1) |
| PLA2G6 mutation underlies infantile neuroaxonal dystrophy. Khateeb S., Flusser H., Ofir R., Shelef I., Narkis G., Vardi G., Shorer Z., Levy R., Galil A., Elbedour K. et al. Am. J. Hum. Genet. 79:942-948(2006) · UniProtKB (1) · Mapped (10) |
| Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies. Shatzky S., Moses S., Levy J., Pinsk V., Hershkovitz E., Herzog L., Shorer Z., Luder A., Parvari R. Am. J. Med. Genet. 92:353-360(2000) · UniProtKB (1) |
| Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case. Warner L.E., Shohat M., Shorer Z., Lupski J.R. Hum. Mutat. 10:21-24(1997) · UniProtKB (1) |