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1Academic Journal
المؤلفون: Grange, Laura J, Reynolds, John J, Ullah, Farid, Isidor, Bertrand, Shearer, Robert F, Latypova, Xenia, Baxley, Ryan M, Oliver, Antony W, Ganesh, Anil, Cooke, Sophie L, Jhujh, Satpal S, McNee, Gavin S, Hollingworth, Robert, Higgs, Martin R, others
وصف الملف: application/pdf
Relation: http://sro.sussex.ac.uk/id/eprint/108943/1/s41467-022-34349-8.pdf; Grange, Laura J, Reynolds, John J, Ullah, Farid, Isidor, Bertrand, Shearer, Robert F, Latypova, Xenia, Baxley, Ryan M, Oliver, Antony W, Ganesh, Anil, Cooke, Sophie L, Jhujh, Satpal S, McNee, Gavin S, Hollingworth, Robert, Higgs, Martin R and others, (2022) Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy. Nature Communications, 13. a6664. ISSN 2041-1723
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2Academic Journal
المؤلفون: Abu-Libdeh, Bassam, Jhujh, Satpal S, Dhar, Srijita, Sommers, Joshua A, Datta, Arindam, Longo, Gabriel M C, Grange, Laura J, Reynolds, John J, Cooke, Sophie L, McNee, Gavin S, Hollingworth, Robert, Woodward, Beth L, Ganesh, Anil N, Smerdon, Stephen J, Nicolae, Claudia M, Durlacher-Betzer, Karina, Molho-Pessach, Vered, Abu-Libdeh, Abdulsalam, Meiner, Vardiella, Moldovan, George-Lucian, Roukos, Vassilis, Harel, Tamar, Brosh, Robert M, Stewart, Grant S
وصف الملف: text
Relation: https://publications.aston.ac.uk/id/eprint/45211/1/B_Abu_Libdeh_et_al_RECON_syndrome_genome_instability_disorder_mutations_in_DNA_helicase_RECQL1.pdf; Abu-Libdeh, Bassam, Jhujh, Satpal S, Dhar, Srijita, Sommers, Joshua A, Datta, Arindam, Longo, Gabriel M C, Grange, Laura J, Reynolds, John J , Cooke, Sophie L, McNee, Gavin S, Hollingworth, Robert, Woodward, Beth L, Ganesh, Anil N, Smerdon, Stephen J, Nicolae, Claudia M, Durlacher-Betzer, Karina, Molho-Pessach, Vered, Abu-Libdeh, Abdulsalam, Meiner, Vardiella, Moldovan, George-Lucian, Roukos, Vassilis, Harel, Tamar, Brosh, Robert M and Stewart, Grant S (2022). RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1. Journal of Clinical Investigation, 132 (5)
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3Academic Journal
المؤلفون: Smith, James M., Barlaam, Bernard, Beattie, David, Bradshaw, Lauren, Chan, Ho Man, Chiarparin, Elisabetta, Collingwood, Olga, Cooke, Sophie L., Cronin, Anna, Cumming, Iain, Dean, Emma, Debreczeni, Judit É., del Barco Barrantes, Iván, Diene, Coura, Gianni, Davide, Guerot, Carine, Guo, Xiaoxiao, Guven, Sinem, Hayhow, Thomas G., Hong, Ted
المصدر: Journal of Medicinal Chemistry; 8/22/2024, Vol. 671 Issue 6, p13604-13638, 35p
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4Academic Journal
المؤلفون: Cooke, Sophie L., Soares, Barbara L., Müller, Carolin A., Nieduszynski, Conrad A., Bastos de Oliveira, Francisco M., de Bruin, Robertus A. M.
وصف الملف: application/pdf
Relation: https://ueaeprints.uea.ac.uk/id/eprint/87851/1/Cooke_etal_2022_JBC.pdf; Cooke, Sophie L., Soares, Barbara L., Müller, Carolin A., Nieduszynski, Conrad A., Bastos de Oliveira, Francisco M. and de Bruin, Robertus A. M. (2021) Tos4 mediates gene expression homeostasis through interaction with HDAC complexes independently of H3K56 acetylation. Journal of Biological Chemistry, 296. ISSN 0021-9258
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5Electronic Resource
المؤلفون: Grange, Laura J., Reynolds, John J., Ullah, Farid, Isidor, Bertrand, Shearer, Robert F., Latypova, Xenia, Baxley, Ryan M., Oliver, Antony W., Ganesh, Anil, Cooke, Sophie L., Jhujh, Satpal S., McNee, Gavin S., Hollingworth, Robert, Higgs, Martin R., Natsume, Toyoaki, Khan, Tahir, Martos-Moreno, Gabriel, Chupp, Sharon, Mathew, Christopher G., Parry, David, Simpson, Michael A., Nahavandi, Nahid, Yüksel, Zafer, Drasdo, Mojgan, Kron, Anja, Vogt, Petra, Jonasson, Annemarie, Seth, Saad Ahmed, Gonzaga-Jauregui, Claudia, Brigatti, Karlla W., Stegmann, Alexander P.A., Kanemaki, Masato, Josifova, Dragana, Uchiyama, Yuri, Oh, Yukiko, Morimoto, Akira, Osaka, Hitoshi, Ammous, Zineb, Argente, Jesús, Matsumoto, Naomichi, Stumpel, Constance T.R.M., Taylor, Alexander M.R., Jackson, Andrew P., Bielinsky, Anja Katrin, Mailand, Niels, Le Caignec, Cedric, Davis, Erica E., Stewart, Grant S.
المصدر: Grange , L J , Reynolds , J J , Ullah , F , Isidor , B , Shearer , R F , Latypova , X , Baxley , R M , Oliver , A W , Ganesh , A , Cooke , S L , Jhujh , S S , McNee , G S , Hollingworth , R , Higgs , M R , Natsume , T , Khan , T , Martos-Moreno , G , Chupp , S , Mathew , C G , Parry , D , Simpson , M A , Nahavandi , N , Yüksel , Z , Drasdo , M , Kron , A , Vogt , P , Jonasson , A , Seth , S A , Gonzaga-Jauregui , C , Brigatti , K W , Stegmann , A P A , Kanemaki , M , Josifova , D , Uchiyama , Y , Oh , Y , Morimoto , A , Osaka , H , Ammous , Z , Argente , J , Matsumoto , N , Stumpel , C T R M , Taylor , A M R , Jackson , A P , Bielinsky , A K , Mailand , N , Le Caignec , C , Davis , E E & Stewart , G S 2022 , ' Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy ' , Nature Communications , vol. 13 , 6664 .
مصطلحات الفهرس: article
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6Periodical
المؤلفون: Smith, James M., Barlaam, Bernard, Beattie, David, Bradshaw, Lauren, Chan, Ho Man, Chiarparin, Elisabetta, Collingwood, Olga, Cooke, Sophie L., Cronin, Anna, Cumming, Iain, Dean, Emma, Debreczeni, Judit É., del Barco Barrantes, Iván, Diene, Coura, Gianni, Davide, Guerot, Carine, Guo, Xiaoxiao, Guven, Sinem, Hayhow, Thomas G., Hong, Ted, Kemmitt, Paul D., Lamont, Gillian M., Lamont, Scott, Lynch, James T., McWilliams, Lisa, Moore, Shaun, Raubo, Piotr, Robb, Graeme R., Robinson, James, Scott, James S., Srinivasan, Bharath, Steward, Oliver, Stubbs, Christopher J., Syson, Karl, Tan, Lixiang, Turner, Oliver, Underwood, Elizabeth, Urosevic, Jelena, Vazquez-Chantada, Mercedes, Whittaker, Amy L., Wilson, David M., Winter-Holt, Jon J.
المصدر: Journal of Medicinal Chemistry; 20240101, Issue: Preprints