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Issue Date
Title
Author(s)
2016
TBC1D24 genotype-phenotype correlation
Balestrini, S.
;
Milh, M.
;
Castiglioni, C.
;
Lüthy, K.
;
Finelli, M.
;
Verstreken, P.
;
Cardon, A.
;
Stražišar, B.
;
Holder, J.
;
Lesca, G.
;
Mancardi, M.
;
Poulat, A.
;
Repetto, G.
;
Banka, S.
;
Bilo, L.
;
Birkeland, L.
;
Bosch, F.
;
Brockmann, K.
;
Cross, J.
;
Doummar, D.
;
et al.
2016
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy
Ricos, M.G.
;
Hodgson, B.L.
;
Pippucci, T.
;
Saidin, A.
;
Ong, Y.S.
;
Heron, S.E.
;
Licchetta, L.
;
Bisulli, F.
;
Bayly, M.A.
;
Hughes, J.
;
Baldassari, S.
;
Palombo, F.
;
Epilepsy Electroclinical Study Group,
;
Santucci, M.
;
Meletti, S.
;
Berkovic, S.F.
;
Rubboli, G.
;
Thomas, P.Q.
;
Scheffer, I.E.
;
Tinuper, P.
;
et al.
2016
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study
Friez, M.
;
Brooks, S.
;
Stevenson, R.
;
Field, M.
;
Basehore, M.
;
Adès, L.
;
Sebold, C.
;
Mcgee, S.
;
Saxon, S.
;
Skinner, C.
;
Craig, M.
;
Murray, L.
;
Simensen, R.
;
Yap, Y.
;
Shaw, M.
;
Gardner, A.
;
Corbett, M.
;
Kumar, R.
;
Bosshard, M.
;
Van Loon, B.
;
et al.
2016
Ampullary cancers harbor ELF3 tumor suppressor gene mutations and exhibit frequent WNT dysregulation
Gingras, M.
;
Chang, D.
;
Donehower, L.
;
Covington, K.
;
Gill, A.
;
Ittmann, M.
;
Creighton, C.
;
Johns, A.
;
Shinbrot, E.
;
Dewal, N.
;
Fisher, W.
;
Pilarsky, C.
;
Grützmann, R.
;
Overman, M.
;
Jamieson, N.
;
Van Buren, G.
;
Drummond, J.
;
Walker, K.
;
Hampton, O.
;
Xi, L.
;
et al.
2016
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
van Bon, B.W.M.
;
Coe, B.P.
;
Bernier, R.
;
Green, C.
;
Gerdts, J.
;
Witherspoon, K.
;
Kleefstra, T.
;
Willemsen, M.H.
;
Kumar, R.
;
Bosco, P.
;
Fichera, M.
;
Li, D.
;
Amaral, D.
;
Cristofoli, F.
;
Peeters, H.
;
Haan, E.
;
Romano, C.
;
Mefford, H.C.
;
Scheffer, I.
;
Gecz, J.
;
et al.
2016
Integration of genetic and clinical risk factors improves prognostication in relapsed childhood B-cell precursor acute lymphoblastic leukemia
Irving, J.
;
Enshaei, A.
;
Parker, C.
;
Sutton, R.
;
Kuiper, R.
;
Erhorn, A.
;
Minto, L.
;
Venn, N.
;
Law, T.
;
Yu, J.
;
Schwab, C.
;
Davies, R.
;
Matheson, E.
;
Davies, A.
;
Sonneveld, E.
;
Den Boer, M.
;
Love, S.
;
Harrison, C.
;
Hoogerbrugge, P.
;
Revesz, T.
;
et al.
2016
The genomic landscape of core-binding factor acute myeloid leukemias
Faber, Z.
;
Chen, X.
;
Gedman, A.
;
Boggs, K.
;
Cheng, J.
;
Ma, J.
;
Radtke, I.
;
Chao, J.
;
Walsh, M.
;
Song, G.
;
Andersson, A.
;
Dang, J.
;
Dong, L.
;
Liu, Y.
;
Huether, R.
;
Cai, Z.
;
Mulder, H.
;
Wu, G.
;
Edmonson, M.
;
Rusch, M.
;
et al.
2016
Antiretroviral resistance at virological failure in the NEAT 001/ANRS 143 trial: raltegravir plus darunavir/ritonavir or tenofovir/emtricitabine plus darunavir/ritonavir as first-line ART
Lambert-Niclot, S.
;
George, E.
;
Pozniak, A.
;
White, E.
;
Schwimmer, C.
;
Jessen, H.
;
Johnson, M.
;
Dunn, D.
;
Perno, C.
;
Clotet, B.
;
Plettenberg, A.
;
Blaxhult, A.
;
Palmisano, L.
;
Wittkop, L.
;
Calvez, V.
;
Marcelin, A.
;
Raffi, F.
;
Dedes, N.
;
Chěne, G.
;
Allavena, C.
;
et al.
Discover
Author
2
Kumar, R.
1
Adès, L.
1
Allavena, C.
1
Amaral, D.
1
Andersson, A.
1
Baldassari, S.
1
Balestrini, S.
1
Banka, S.
1
Basehore, M.
1
Bayly, M.A.
.
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Subject
8
Humans
5
Child
5
Male
4
Adult
4
Female
3
Adolescent
3
Child, Preschool
3
Cohort Studies
3
Middle Aged
3
Young Adult
.
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