未登录BRAFV600E-mutated serrated colorectal neoplasia drives transcriptional activation of cholesterol metabolism
Rzasa, Paulina; Whelan, Sarah; Farahmand, Pooyeh; Cai, Hong; Guterman, Inna; Palacios-Gallego, Raquel; Undru, Shanthi S.; Sandford, Lauren; Green, Caleb; Andreadi, Catherine; Mintseva, Maria; Parrott, Emma; Jin, Hong; Hey, Fiona; Giblett, Susan; Sylvius, Nicolas B.; Allcock, Natalie S.; Straatman-Iwanowska, Anna; Feuda, Roberto; Tufarelli, Cristina; Brown, Karen; Pritchard, Catrin; Rufini, Alessandro .png)
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收藏分享 收藏 分享 收藏 Discordant phenotypes in twins with infantile nystagmusAamir, Abdullah; Kuht, Helen J.; McLean, Rebecca J.; Maconachie, Gail D. E.; Sheth, Viral; Dawar, Basu; Purohit, Ravi; Sylvius, Nicolas; Hisaund, Michael; Zubcov-Iwantscheff, Alina; Proudlock, Frank A.; Gottlob, Irene; Thomas, Mervyn G. 分享 收藏 SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specializationKuht, Helen J.; Han, Jinu; Maconachie, Gail D. E.; Park, Sung Eun; Lee, Seung-Tae; McLean, Rebecca; Sheth, Viral; Hisaund, Michael; Dawar, Basu; Sylvius, Nicolas; Mahmood, Usman; Proudlock, Frank A.; Gottlob, Irene; Lim, Hyun Taek; Thomas, Mervyn G. 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Impaired P2X1 Receptor-Mediated Adhesion in Eosinophils from Asthmatic Patients哮喘患者嗜酸性粒细胞中P2X1受体介导的粘附受损Wright, Adam; Mahaut-Smith, Martyn; Symon, Fiona; Sylvius, Nicolas; Ran, Shaun; Bafadhel, Mona; Muessel, Michelle; Bradding, Peter; Wardlaw, Andrew; Vial, Catherine 分享 收藏 Identification of microRNAs associated with abdominal aortic aneurysms and peripheral arterial diseaseStather, P. W.; Sylvius, N.; Sidloff, D. A.; Dattani, N.; Verissimo, A.; Wild, J. B.; Butt, H. Z.; Choke, E.; Sayers, R. D.; Bown, M. J. 分享 收藏 分享 收藏 分享 收藏 Abdominal Aortic Aneurysm Is Associated with a Variant in Low-Density Lipoprotein Receptor-Related Protein 1Bown, Matthew J.; Jones, Gregory T.; Harrison, Seamus C.; Wright, Benjamin J.; Bumpstead, Suzannah; Baas, Annette F.; Gretarsdottir, Solveig; Badger, Stephen A.; Bradley, Declan T.; Burnand, Kevin; Child, Anne H.; Clough, Rachel E.; Cockerill, Gillian; Hafez, Hany; Scott, D. Julian A.; Futers, Simon; Johnson, Anne; Sohrabi, Soroush; Smith, Alberto; Thompson, Matthew M.; van Bockxmeer, Frank M.; Waltham, Matthew; Matthiasson, Stefan E.; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Blankensteijn, Jan D.; Teijink, Joep A. W.; Wijmenga, Cisca; de Graaf, Jacqueline; Kiemeney, Lambertus A.; Assimes, Themistocles L.; McPherson, Ruth; Folkersen, Lasse; Franco-Cereceda, Anders; Palmen, Jutta; Smith, Andrew J.; Sylvius, Nicolas; Wild, John B.; Refstrup, Mette; Edkins, Sarah; Gwilliam, Rhian; Hunt, Sarah E.; Potter, Simon; Lindholt, Jes S.; Frikke-Schmidt, Ruth; Tybjaerg-Hansen, Anne; Hughes, Anne E.; Golledge, Jonathan; Norman, Paul E.; van Rij, Andre; Powel, Janet T.; Eriksson, Per; Stefansson, Karl; Thompson, John R.; Humphries, Steve E.; Sayers, Robert D.; Deloukas, Panos; Samani, Nilesh J. 分享 收藏 分享 收藏 Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruptionGupta, Pallavi; Bilinska, Zofia T.; Sylvius, Nicolas; Boudreau, Emilie; Veinot, John P.; Labib, Sarah; Bolongo, Pierrette M.; Hamza, Akil; Jackson, Tracy; Ploski, Rafal; Walski, Michal; Grzybowski, Jacek; Walczak, Ewa; Religa, Grzegorz; Fidzianska, Anna; Tesson, Frederique 分享 收藏 Specific contribution of lamin A and lamin C in the development of laminopathiesSylvius, Nicolas; Hathaway, Andrea; Boudreau, Emilie; Gupta, Pallavi; Labib, Sarah; Bolongo, Pierrette M.; Rippstein, Peter; McBride, Heidi; Bilinska, Zofia T.; Tesson, Frederique 分享 收藏 分享 收藏 In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patientsSylvius, N; Bilinska, ZT; Veinot, JP; Fidzianska, A; Bolongo, PM; Poon, S; McKeown, P; Davies, RA; Chan, KL; Tang, ASL; Dyack, S; Grzybowski, J; Ruzyllo, W; McBride, H; Tesson, F 分享 收藏 分享 收藏 A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q14Sylvius, N; Tesson, F; Gayet, C; Charron, P; Bénaïche, A; Mangin, L; Peuchmaurd, M; Duboscq-Bidot, L; Feingold, J; Beckmann, JS; Bouchier, C; Komajda, M 分享 收藏 
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