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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1988 1
1989 1
1990 7
1994 2
1995 2
1996 2
1997 3
1998 3
1999 2
2001 6
2002 2
2003 7
2004 4
2005 6
2006 5
2007 4
2010 1
2012 2
2013 3
2022 1
2024 0

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PubMed for id: 296439295

58 results

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Page 1
Structural basis for the synthesis of the core 1 structure by C1GalT1.
González-Ramírez AM, Grosso AS, Yang Z, Compañón I, Coelho H, Narimatsu Y, Clausen H, Marcelo F, Corzana F, Hurtado-Guerrero R. González-Ramírez AM, et al. Nat Commun. 2022 May 3;13(1):2398. doi: 10.1038/s41467-022-29833-0. Nat Commun. 2022. PMID: 35504880 Free PMC article.
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
Kirby A, Gnirke A, Jaffe DB, Barešová V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hůlková H, Sovová J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ. Kirby A, et al. Nat Genet. 2013 Mar;45(3):299-303. doi: 10.1038/ng.2543. Epub 2013 Feb 10. Nat Genet. 2013. PMID: 23396133 Free PMC article.
The DNA sequence and biological annotation of human chromosome 1.
Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry… See abstract for full author list ➔ Gregory SG, et al. Nature. 2006 May 18;441(7091):315-21. doi: 10.1038/nature04727. Nature. 2006. PMID: 16710414
58 results