10 results for author:"Hurles M.E." in Literature citations
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| Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Olbrich H., Schmidts M., Werner C., Onoufriadis A., Loges N.T., Raidt J., Banki N.F., Shoemark A., Burgoyne T., Al Turki S. et al. Am. J. Hum. Genet. 91:672-684(2012) · UniProtKB (2) |
| A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Celestino-Soper P.B., Violante S., Crawford E.L., Luo R., Lionel A.C., Delaby E., Cai G., Sadikovic B., Lee K., Lo C. et al. Proc. Natl. Acad. Sci. U.S.A. 109:7974-7981(2012) · Mapped (1) |
| Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Albers C.A., Paul D.S., Schulze H., Freson K., Stephens J.C., Smethurst P.A., Jolley J.D., Cvejic A., Kostadima M., Bertone P. et al. Nat. Genet. 44:435-9, 2012:S1-2(2012) · Mapped (2) |
| Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Wellcome Trust Case Control Consortium Nature 464:713-720(2010) · Mapped (3) |
| Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease. Prescott N.J., Dominy K.M., Kubo M., Lewis C.M., Fisher S.A., Redon R., Huang N., Stranger B.E., Blaszczyk K., Hudspith B. et al. Hum. Mol. Genet. 19:1828-1839(2010) · Mapped (1) |
| Adaptive evolution of UGT2B17 copy-number variation. Xue Y., Sun D., Daly A., Yang F., Zhou X., Zhao M., Huang N., Zerjal T., Lee C., Carter N.P. et al. Am. J. Hum. Genet. 83:337-346(2008) · Mapped (1) |
| Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y. Jobling M.A., Lo I.C., Turner D.J., Bowden G.R., Lee A.C., Xue Y., Carvalho-Silva D., Hurles M.E., Adams S.M., Chang Y.M. et al. Hum. Mol. Genet. 16:307-316(2007) · Mapped (1) |
| Deciphering past human population movements in Oceania: provably optimal trees of 127 mtDNA genomes. Pierson M.J., Martinez-Arias R., Holland B.R., Gemmell N.J., Hurles M.E., Penny D. Mol. Biol. Evol. 23:1966-1975(2006) · UniProtKB (32) |
| The DNA sequence of the human X chromosome. Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P. et al. Nature 434:325-337(2005) · UniProtKB (1,805) |
| Global haplotype diversity in the human insulin gene region. Stead J.D.H., Hurles M.E., Jeffreys A.J. Genome Res. 13:2101-2111(2003) · UniProtKB (7) |