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Results 21-30 of 32 (Search time: 0.007 seconds).
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PreviewIssue DateTitleAuthor(s)
2013MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype studyMakrythanasis, P.; van Bon, B.; Steehouwer, M.; Rodríguez-Santiago, B.; Simpson, M.; Dias, P.; Anderlid, B.; Arts, P.; Bhat, M.; Augello, B.; Biamino, E.; Bongers, E.; del Campo, M.; Cordeiro, I.; Cueto-González, A.; Cuscó, I.; Deshpande, C.; Frysira, E.; Izatt, L.; Flores, R.; et al.
2017A recurrent de novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformationsPalmer, E.; Kumar, R.; Gordon, C.; Shaw, M.; Hubert, L.; Carroll, R.; Rio, M.; Murray, L.; Leffler, M.; Dudding-Byth, T.; Oufadem, M.; Lalani, S.; Lewis, A.; Xia, F.; Tam, A.; Webster, R.; Brammah, S.; Filippini, F.; Pollard, J.; Spies, J.; 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.
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.
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.
2016A generic method of engagement to elicit regional coastal management optionsDichmont, C.; Dutra, L.; Owens, R.; Jebreen, E.; Thompson, C.; Deng, R.; van Putten, E.; Pascual, R.; Dambacher, J.; Warne, M.; Quinn, R.; Thébaud, O.; Bennett, J.; Read, M.; Wachenfeld, D.; Davies, J.; Garland, A.; Dunning, M.; Collier, C.; Waycott, M.; et al.
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.
2018The genomic history of southeastern EuropeMathieson, I.; Alpaslan-Roodenberg, S.; Posth, C.; Szécsényi-Nagy, A.; Rohland, N.; Mallick, S.; Olalde, I.; Broomandkhoshbacht, N.; Candilio, F.; Cheronet, O.; Fernandes, D.; Ferry, M.; Gamarra, B.; Fortes, G.; Haak, W.; Harney, E.; Jones, E.; Keating, D.; Krause-Kyora, B.; Kucukkalipci, I.; et al.
1999Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromesMcDermott, M.; Aksentijevich, I.; Galon, J.; McDermott, E.; Ogunkolade, B.; Centola, M.; Mansfield, E.; Gadina, M.; Karenko, L.; Petterson, T.; McCarthy, J.; Frucht, D.; Aringer, M.; Torosyan, Y.; Teppo, A.; Wilson, M.; Karaarslan, H.; Wan, Y.; Todd, I.; Wood, G.; et al.
2016Clinical and molecular analyses of Beckwith–Wiedemann syndrome: comparison between spontaneous conception and assisted reproduction techniquesTenorio, J.; Romanelli, V.; Martin-Trujillo, A.; Fernández, G.; Segovia, M.; Perandones, C.; Pérez Jurado, L.; Esteller, M.; Fraga, M.; Arias, P.; Gordo, G.; Dapía, I.; Mena, R.; Palomares, M.; Pérez de Nanclares, G.; Nevado, J.; García-Miñaur, S.; Santos-Simarro, F.; Martinez-Glez, V.; Vallespín, E.; et al.