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Results 11-19 of 19 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2013
Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features
Bonnefond, 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.
2013
Interlaboratory 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.
2013
Mutations in DEPDC5 cause familial focal epilepsy with variable foci
Dibbens, 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.
2012
Cryptococcus neoformans-Cryptococcus gattii Species Complex: an International Study of Wild-Type Susceptibility Endpoint Distributions and Epidemiological Cutoff Values for Fluconazole, Itraconazole, Posaconazole, and Voriconazole
Espinel-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.
2016
A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape
Ried, 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.
2011
Identification of SOX3 as an XX male sex reversal gene in mice and humans
Sutton, 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.
2014
Integrative genomics reveals novel molecular pathways and gene networks for coronary artery disease
Mäkinen, 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.
2017
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Stessman, 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.
2018
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
Jansen, 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.
Discover
Author
3
Coe, B.
3
Hughes, J.
3
Kvarnung, M.
2
Canton, E.
2
Cuenca-Estrella, M.
2
Espinel-Ingroff, A.
2
Fothergill, A.
2
Friend, K.
2
Fuller, J.
2
Hoekzema, K.
.
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Subject
12
Male
10
Female
9
Animals
7
Adult
7
Mice
5
Child
5
Mice, Inbred C57BL
4
Adolescent
4
Case-Control Studies
4
Child, Preschool
.
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