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Results 11-19 of 19 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2013Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like featuresBonnefond, A.; Raimondo, A.; Stutzmann, F.; Ghoussaini, M.; Ramachandrappa, S.; Bersten, D.; Durand, E.; Vatin, V.; Balkau, B.; Lantieri, O.; Raverdy, V.; Pattou, F.; Van Hul, W.; Van Gaal, L.; Peet, D.; Weill, J.; Miller, J.; Horber, F.; Goldstone, A.; Driscoll, D.; et al.
2013Interlaboratory variability of caspofungin MICs for Candida spp. using CLSI and EUCAST methods: Should the clinical laboratory be testing this agent?Espinel-Ingroff, A.; Arendrup, M.; Pfaller, M.; Bonfietti, L.; Bustamante, B.; Canton, E.; Chryssanthou, E.; Cuenca-Estrella, M.; Dannaoui, E.; Fothergill, A.; Fuller, J.; Gaustad, P.; Gonzalez, G.; Guarro, J.; Lass-Florl, C.; Lockhart, S.; Meis, J.; Moore, C.; Ostrosky-Zeichner, L.; Pelaez, T.; et al.
2013Mutations in DEPDC5 cause familial focal epilepsy with variable fociDibbens, L.; de Vries, B.; Donatello, S.; Heron, S.; Hodgson, B.; Chintawar, S.; Crompton, D.; Hughes, J.; Bellows, S.; Klein, K.; Callenbach, P.; Corbett, M.; Gardner, A.; Kivity, S.; Iona, X.; Regan, B.; Weller, C.; Crimmins, D.; O'Brien, T.; Guerrero-Lopez, R.; et al.
2012Cryptococcus neoformans-Cryptococcus gattii Species Complex: an International Study of Wild-Type Susceptibility Endpoint Distributions and Epidemiological Cutoff Values for Fluconazole, Itraconazole, Posaconazole, and VoriconazoleEspinel-Ingroff, A.; Aller, A.; Canton, E.; Castanon-Olivares, L.; Chowdhary, A.; Cordoba, S.; Cuenca-Estrella, M.; Fothergill, A.; Fuller, J.; Govender, N.; Hagen, F.; Illnait-Zaragozi, M.; Johnson, E.; Kidd, S.; Lass-Florl, C.; Lockhart, S.; Martins, M.; Meis, J.; Melhem, M.; Ostrosky-Zeichner, L.; 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.
2014Integrative genomics reveals novel molecular pathways and gene networks for coronary artery diseaseMäkinen, V.; Civelek, M.; Meng, Q.; Zhang, B.; Zhu, J.; Levian, C.; Huan, T.; Segrè, A.; Ghosh, S.; Vivar, J.; Nikpay, M.; Stewart, A.; Nelson, C.; Willenborg, C.; Erdmann, J.; Blakenberg, S.; O'Donnell, C.; März, W.; Laaksonen, R.; Epstein, S.; et al.; Attie, A.
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.