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High-density single-nucleotide polymorphism maps of the human genome.
Miller RD, Phillips MS, Jo I, Donaldson MA, Studebaker JF, Addleman N, Alfisi SV, Ankener WM, Bhatti HA, Callahan CE, Carey BJ, Conley CL, Cyr JM, Derohannessian V, Donaldson RA, Elosua C, Ford SE, Forman AM, Gelfand CA, Grecco NM, Gutendorf SM, Hock CR, Hozza MJ, Hur S, In SM, Jackson DL, Jo SA, Jung SC, Kim S, Kimm K, Kloss EF, Koboldt DC, Kuebler JM, Kuo FS, Lathrop JA, Lee JK, Leis KL, Livingston SA, Lovins EG, Lundy ML, Maggan S, Minton M, Mockler MA, Morris DW, Nachtman EP, Oh B, Park C, Park CW, Pavelka N, Perkins AB, Restine SL, Sachidanandam R, Reinhart AJ, Scott KE, Shah GJ, Tate JM, Varde SA, Walters A, White JR, Yoo YK, Lee JE, Boyce-Jacino MT, Kwok PY; SNP Consortium Allele Frequency Project. Miller RD, et al. Among authors: scott ke. Genomics. 2005 Aug;86(2):117-26. doi: 10.1016/j.ygeno.2005.04.012. Genomics. 2005. PMID: 15961272 Free PMC article.
Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots.
Phillips MS, Lawrence R, Sachidanandam R, Morris AP, Balding DJ, Donaldson MA, Studebaker JF, Ankener WM, Alfisi SV, Kuo FS, Camisa AL, Pazorov V, Scott KE, Carey BJ, Faith J, Katari G, Bhatti HA, Cyr JM, Derohannessian V, Elosua C, Forman AM, Grecco NM, Hock CR, Kuebler JM, Lathrop JA, Mockler MA, Nachtman EP, Restine SL, Varde SA, Hozza MJ, Gelfand CA, Broxholme J, Abecasis GR, Boyce-Jacino MT, Cardon LR. Phillips MS, et al. Among authors: scott ke. Nat Genet. 2003 Mar;33(3):382-7. doi: 10.1038/ng1100. Epub 2003 Feb 18. Nat Genet. 2003. PMID: 12590262
Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1.
Cawley NX, Giddens S, Farhat NM, Luke RA, Scott KEJ, Mohamed HO, Dang Do A, Berry-Kravis E, Cologna SM, Liu F, Porter FD. Cawley NX, et al. Among authors: scott kej. Mol Genet Metab. 2023 Nov;140(3):107656. doi: 10.1016/j.ymgme.2023.107656. Epub 2023 Jul 23. Mol Genet Metab. 2023. PMID: 37517328 Free PMC article.
69 results