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Results 11-17 of 17 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
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.M.; Wilson, M.; Karaarslan, H.; Wan, Y.; Todd, I.; Wood, G.; et al.
2016A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shapeRied, J.; Jeff, J.; Chu, A.; Bragg-Gresham, J.; Van Dongen, J.; Huffman, J.; Ahluwalia, T.; Cadby, G.; Eklund, N.; Eriksson, J.; Esko, T.; Feitosa, M.; Goel, A.; Gorski, M.; Hayward, C.; Heard-Costa, N.; Jackson, A.; Jokinen, E.; Kanoni, S.; Kristiansson, K.; et al.
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.
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.
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.
1997Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the Familial Mediterranean Fever Locus (MEFV) on chromosome 16p13.3Sood, R.; Blake, T.; Aksentijevich, I.; Wood, G.; Chen, X.; Gardner, D.; Shelton, D.; Mangelsdorf, M.; Orsborn, A.; Pras, E.; Balow, J.; Centola, M.; Deng, Z.; Zaks, N.; Chen, X.; Richards, N.; Fischel-Ghodsian, N.; Rotter, J.; Pras, M.; Shohat, M.; 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.