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Results 1-10 of 11 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
1997Genomic structure and complete nucleotide sequence of the Batten Disease Gene, CLN3Mitchison, H.; Munroe, P.; O'Rawe, A.; Taschner, P.; De Vos, N.; Kremmidiotis, G.; Lensink, I.; Munk, A.; D'Arigo, K.; Anderson, J.; Lerner, T.; Moyzis, R.; Callen, D.; Breuning, M.; Doggett, N.; Gardiner, R.; Mole, S.
1998Construction of an ~700-kb transcript map around the Familial Mediterranean Fever locus on human chromosome 16p13.3Centola, M.; Chen, X.; Sood, R.; Deng, Z.; Aksentijevich, I.; Blake, T.; Ricke, D.; Chen, X.; Wood, G.; Zaks, N.; Richards, N.; Krizman, D.; Mansfield, E.; Apostolou, S.; Liu, J.; Shafran, N.; Vedula, A.; Hamon, M.; Cercek, A.; Kahan, T.; et al.
2019Race in a genome: long read sequencing, ethnicity-specific reference genomes and the shifting horizon of raceKowal, E.; Llamas, B.
2017Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencingJansen, I.E.; Ye, H.; Heetveld, S.; Lechler, M.C.; Michels, H.; Seinstra, R.I.; Lubbe, S.J.; Drouet, V.; Lesage, S.; Majounie, E.; Gibbs, J.R.; Nalls, M.A.; Ryten, M.; Botia, J.A.; Vandrovcova, J.; Simon-Sanchez, J.; Castillo-Lizardo, M.; Rizzu, P.; Blauwendraat, C.; Chouhan, A.K.; et al.
2020Genetic history from the Middle Neolithic to present on the Mediterranean island of SardiniaMarcus, J.H.; Posth, C.; Ringbauer, H.; Lai, L.; Skeates, R.; Sidore, C.; Beckett, J.; Furtwängler, A.; Olivieri, A.; Chiang, C.W.K.; Al-Asadi, H.; Dey, K.; Joseph, T.A.; Liu, C.-C.; Der Sarkissian, C.; Radzevičiūtė, R.; Michel, M.; Gradoli, M.G.; Marongiu, P.; Rubino, S.; et al.
1999Genomic structure and expression analysis of the spastic paraplegia gene, SPG7Settasatian, C.; Whitmore, S.; Crawford, J.; Bilton, R.; Cleton-Jansen, A.M.; Sutherland, G.; Callen, D.
2014Mitochondrial genome sequencing in mesolithic North East Europe unearths a new sub-clade within the broadly distributed human haplogroup C1Der Sarkissian, C.; Brotherton, P.; Balanovsky, O.; Templeton, J.; Llamas, B.; Soubrier, J.; Moiseyev, V.; Khartanovich, V.; Cooper, A.; Haak, W.; Genographic Consortium,; Achilli, A.
1998PAK3 mutation in nonsyndromic X-linked mental retardationAllen, K.; Gleeson, J.; Bagrodia, S.; Partington, M.; MacMillan, J.; Cerione, R.; Mulley, J.; Walsh, C.
2018A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencyJansen, S.; Hoischen, A.; Coe, B.; Carvill, G.; van Esch, H.; Bosch, D.; Andersen, U.; Baker, C.; Bauters, M.; Bernier, R.; van Bon, B.; Claahsen-van der Grinten, H.; Gecz, J.; Gilissen, C.; Grillo, L.; Hackett, A.; Kleefstra, T.; Koolen, D.; Kvarnung, M.; Larsen, M.; et al.
1998Characterisation and screening for mutations of the growth arrest-specific 11 (GAS11) and C16orf3 genes at 16q24.3 in breast cancerWhitmore, S.; Settasatian, C.; Crawford, J.; Lower, K.; McCallum, B.; Seshadri, R.; Cornelisse, C.; Moerland, E.; Cleton-Jansen, A.M.; Tipping, A.; Mathew, C.; Savnio, M.; Savoia, A.; Verlander, P.; Auerbach, A.; Van Berkel, C.; Pronk, J.; Doggett, N.; Callen, D.