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2,174 results
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Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1.
Yuan B, Thomas JP, von Kodolitsch Y, Pyeritz RE. Yuan B, et al. Hum Mutat. 1999;14(5):440-6. doi: 10.1002/(SICI)1098-1004(199911)14:5<440::AID-HUMU11>3.0.CO;2-P. Hum Mutat. 1999. PMID: 10533071
Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia.
Yue P, Yuan B, Gerhard DS, Neuman RJ, Isley WL, Harris WS, Schonfeld G. Yue P, et al. Among authors: yuan b. Hum Mutat. 2002 Aug;20(2):110-6. doi: 10.1002/humu.10101. Hum Mutat. 2002. PMID: 12124991
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
Joensuu T, Hämäläinen R, Yuan B, Johnson C, Tegelberg S, Gasparini P, Zelante L, Pirvola U, Pakarinen L, Lehesjoki AE, de la Chapelle A, Sankila EM. Joensuu T, et al. Among authors: yuan b. Am J Hum Genet. 2001 Oct;69(4):673-84. doi: 10.1086/323610. Epub 2001 Aug 27. Am J Hum Genet. 2001. PMID: 11524702 Free PMC article.
Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.
Leegwater PA, Boor PK, Yuan BQ, van der Steen J, Visser A, Könst AA, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS. Leegwater PA, et al. Among authors: yuan bq. Hum Genet. 2002 Mar;110(3):279-83. doi: 10.1007/s00439-002-0682-x. Epub 2002 Feb 8. Hum Genet. 2002. PMID: 11935341
A draft annotation and overview of the human genome.
Wright FA, Lemon WJ, Zhao WD, Sears R, Zhuo D, Wang JP, Yang HY, Baer T, Stredney D, Spitzner J, Stutz A, Krahe R, Yuan B. Wright FA, et al. Among authors: yuan b. Genome Biol. 2001;2(7):RESEARCH0025. doi: 10.1186/gb-2001-2-7-research0025. Epub 2001 Jul 4. Genome Biol. 2001. PMID: 11516338 Free PMC article.
Improved set of short-tandem-repeat polymorphisms for screening the human genome.
Yuan B, Vaske D, Weber JL, Beck J, Sheffield VC. Yuan B, et al. Am J Hum Genet. 1997 Feb;60(2):459-60. Am J Hum Genet. 1997. PMID: 9012420 Free PMC article. No abstract available.
Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.
Leegwater PA, Yuan BQ, van der Steen J, Mulders J, Könst AA, Boor PK, Mejaski-Bosnjak V, van der Maarel SM, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS. Leegwater PA, et al. Among authors: yuan bq. Am J Hum Genet. 2001 Apr;68(4):831-8. doi: 10.1086/319519. Epub 2001 Mar 6. Am J Hum Genet. 2001. PMID: 11254442 Free PMC article.
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.
Ridanpää M, van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B, vanVenrooij W, Pruijn G, Salmela R, Rockas S, Mäkitie O, Kaitila I, de la Chapelle A. Ridanpää M, et al. Among authors: yuan b. Cell. 2001 Jan 26;104(2):195-203. doi: 10.1016/s0092-8674(01)00205-7. Cell. 2001. PMID: 11207361
Docking sites inside Cas9 for adenine base editing diversification and RNA off-target elimination.
Li S, Yuan B, Cao J, Chen J, Chen J, Qiu J, Zhao XM, Wang X, Qiu Z, Cheng TL. Li S, et al. Among authors: yuan b. Nat Commun. 2020 Nov 17;11(1):5827. doi: 10.1038/s41467-020-19730-9. Nat Commun. 2020. PMID: 33203850
Efficacy of uremic pruritus treatment in patients undergoing hemodialysis, a network meta-analysis for randomized clinical trials.
Feng WW, Yuan B, Shen FY, Fan WY, Mei DS, Bao BY, Chen QJ. Feng WW, et al. Among authors: yuan b. Nephrol Ther. 2020 Nov 14:S1769-7255(20)30366-7. doi: 10.1016/j.nephro.2020.09.006. Online ahead of print. Nephrol Ther. 2020. PMID: 33203613
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