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Results 21-30 of 33 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2011Identification of SOX3 as an XX male sex reversal gene in mice and humansSutton, E.; Hughes, J.; White, S.; Sekido, R.; Tan, J.; Arboleda, V.; Rogers, N.; Knower, K.; Rowley, L.; Eyre, H.; Rizzoti, K.; McAninch, D.; Golcalves, J.; Slee, J.; Turbitt, E.; Bruno, D.; Bengtsson, H.; Harley, V.; Vilain, E.; Sinclair, A.; et al.
2018Developing reproducible bioinformatics analysis workflows for heterogeneous computing environments to support African genomicsBaichoo, S.; Souilmi, Y.; Panji, S.; Botha, G.; Meintjes, A.; Hazelhurst, S.; Bendou, H.; de Beste, E.; Mpangase, P.; Souiai, O.; Alghali, M.; Yi, L.; O'Connor, B.; Crusoe, M.; Armstrong, D.; Aron, S.; Joubert, F.; Ahmed, A.; Mbiyavanga, M.; van Heusden, P.; et al.
2017Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biasesStessman, H.; Xiong, B.; Coe, B.; Wang, T.; Hoekzema, K.; Fenckova, M.; Kvarnung, M.; Gerdts, J.; Trinh, S.; Cosemans, N.; Vives, L.; Lin, J.; Turner, T.; Santen, G.; Ruivenkamp, C.; Kriek, M.; Van Haeringen, A.; Aten, E.; Friend, K.; Liebelt, J.; et al.
2017YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunctionGabriele, M.; Vulto-van Silfhout, A.; Germain, P.; Vitriolo, A.; Kumar, R.; Douglas, E.; Haan, E.; Kosaki, K.; Takenouchi, T.; Rauch, A.; Steindl, K.; Frengen, E.; Misceo, D.; Pedurupillay, C.; Stromme, P.; Rosenfeld, J.; Shao, Y.; Craigen, W.; Schaaf, C.; Rodriguez-Buritica, D.; et al.
2017Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsGeisheker, M.; Heymann, G.; Wang, T.; Coe, B.; Turner, T.; Stessman, H.; Hoekzema, K.; Kvarnung, M.; Shaw, M.; Friend, K.; Liebelt, J.; Barnett, C.; Thompson, E.; Haan, E.; Guo, H.; Anderlid, B.; Nordgren, A.; Lindstrand, A.; Vandeweyer, G.; Alberti, A.; et al.
2019Quantifying between-cohort and between-sex genetic heterogeneity in major depressive disorderTrzaskowski, M.; Mehta, D.; Peyrot, W.; Hawkes, D.; Davies, D.; Howard, D.; Kemper, K.; Sidorenko, J.; Maier, R.; Ripke, S.; Mattheisen, M.; Baune, B.; Grabe, H.; Heath, A.; Jones, L.; Jones, I.; Madden, P.; McIntosh, A.; Breen, G.; Lewis, C.; et al.
2012Prognostically significant fusion oncogenes in Pakistani patients with adult acute lymphoblastic leukemia and their association with disease biology and outcomeSabir, N.; Iqbal, Z.; Aleem, A.; Awan, T.; Naeem, T.; Asad, S.; Tahir, A.; Absar, M.; Hasanato, R.; Basit, S.; Chishti, M.; Ul-Haque, M.; Khalid, A.; Sabar, M.; Rasool, M.; Karim, S.; Khan, M.; Samreen, B.; Akram, A.; Siddiqi, M.; et al.
2014Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodiesBras, J.; Guerreiro, R.; Darwent, L.; Parkkinen, L.; Ansorge, O.; Escott-Price, V.; Hernandez, D.G.; Nalls, M.A.; Clark, L.N.; Honig, L.S.; Marder, K.; Van Der Flier, W.M.; Lemstra, A.; Scheltens, P.; Rogaeva, E.; St George-Hyslop, P.; Londos, E.; Zetterberg, H.; Ortega-Cubero, S.; Pastor, P.; et al.
1997Ancient missense mutations in a new member of the RoRet gene family are likely to cause Familial Mediterranean FeverAksentijevich, I.; Centola, M.; Deng, Z.; Sood, R.; Balow, J.; Wood, G.; Zaks, N.; Mansfield, E.; Chen, X.; Eisenberg, S.; Vedula, A.; Shafran, N.; Raben, N.; Pras, E.; Pras, M.; Kastner, D.; Blake, T.; Baxevanis, A.; Robbins, C.; Krizman, D.; et al.
1997A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groupsBalow Jnr., J.; Shelton, D.; Orsborn, A.; Mangelsdorf, M.; Aksentijevich, I.; Blake, T.; Sood, R.; Gardner, D.; Liu, R.; Pras, E.; Levy, E.; Centola, M.; Deng, Z.; Zaks, N.; Wood, G.; Chen, X.; Richards, N.; Shohat, M.; Livneh, A.; Pras, M.; et al.