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Results 1-10 of 24 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2019
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
Corbett, M.A.
;
Kroes, T.
;
Veneziano, L.
;
Bennett, M.F.
;
Florian, R.
;
Schneider, A.L.
;
Coppola, A.
;
Licchetta, L.
;
Franceschetti, S.
;
Suppa, A.
;
Wenger, A.
;
Mei, D.
;
Pendziwiat, M.
;
Kaya, S.
;
Delledonne, M.
;
Straussberg, R.
;
Xumerle, L.
;
Regan, B.
;
Crompton, D.
;
van Rootselaar, A.-F.
;
et al.
2019
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
Guo, H.
;
Li, Y.
;
Shen, L.
;
Wang, T.
;
Jia, X.
;
Liu, L.
;
Xu, T.
;
Ou, M.
;
Hoekzema, K.
;
Wu, H.
;
Gillentine, M.A.
;
Liu, C.
;
Ni, H.
;
Peng, P.
;
Zhao, R.
;
Zhang, Y.
;
Phornphutkul, C.
;
Stegmann, A.P.A.
;
Prada, C.E.
;
Hopkin, R.J.
;
et al.
2013
A novel prion disease associated with diarrhea and autonomic neuropathy
Mead, S.
;
Gandhi, S.
;
Beck, J.
;
Caine, D.
;
Gallujipali, D.
;
Carswell, C.
;
Hyare, H.
;
Joiner, S.
;
Ayling, H.
;
Lashley, T.
;
Linehan, J.M.
;
Al-Doujaily, H.
;
Sharps, B.
;
Revesz, T.
;
Sandberg, M.K.
;
Reilly, M.M.
;
Koltzenburg, M.
;
Forbes, A.
;
Rudge, P.
;
Brandner, S.
;
et al.
2015
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis
Ramos-Brossier, M.
;
Montani, C.
;
Lebrun, N.
;
Gritti, L.
;
Martin, C.
;
Seminatore-Nole, C.
;
Toussaint, A.
;
Moreno, S.
;
Poirier, K.
;
Dorseuil, O.
;
Chelly, J.
;
Hackett, A.
;
Gecz, J.
;
Bieth, E.
;
Faudet, A.
;
Heron, D.
;
Kooy, R.
;
Loeys, B.
;
Humeau, Y.
;
Sala, C.
;
et al.
2015
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Muona, M.
;
Berkovic, S.
;
Dibbens, L.
;
Oliver, K.
;
Maljevic, S.
;
Bayly, M.
;
Joensuu, T.
;
Canafoglia, L.
;
Franceschetti, S.
;
Michelucci, R.
;
Markkinen, S.
;
Heron, S.
;
Hildebrand, M.
;
Andermann, E.
;
Andermann, F.
;
Gambardella, A.
;
Tinuper, P.
;
Licchetta, L.
;
Scheffer, I.
;
Criscuolo, C.
;
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
Point mutations in Exon 1B of APC reveal gastric adenocarcinoma and proximal polyposis of the stomach as a familial adenomatous polyposis variant
Li, J.
;
Woods, S.
;
Healey, S.
;
Beesley, J.
;
Chen, X.
;
Lee, J.
;
Sivakumaran, H.
;
Wayte, N.
;
Nones, K.
;
Waterfall, J.
;
Pearson, J.
;
Patch, A.
;
Senz, J.
;
Ferreira, M.
;
Kaurah, P.
;
MacKenzie, R.
;
Heravi-Moussavi, A.
;
Hansford, S.
;
Lannagan, T.
;
Spurdle, A.
;
et al.
2016
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies
Lewinsohn, M.
;
Brown, A.L.
;
Weinel, L.M.
;
Phung, C.
;
Rafidi, G.
;
Lee, M.K.
;
Schreiber, A.W.
;
Feng, J.
;
Babic, M.
;
Chong, C.E.
;
Lee, Y.
;
Yong, A.
;
Suthers, G.K.
;
Poplawski, N.
;
Altree, M.
;
Phillips, K.
;
Jaensch, L.
;
Fine, M.
;
D'Andrea, R.J.
;
Lewis, I.D.
;
et al.
2015
Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures
Yamamoto, T.
;
Shimojima, K.
;
Sangu, N.
;
Komoike, Y.
;
Ishii, A.
;
Abe, S.
;
Yamashita, S.
;
Imai, K.
;
Kubota, T.
;
Fukasawa, T.
;
Okanishi, T.
;
Enoki, H.
;
Tanabe, T.
;
Saito, A.
;
Furukawa, T.
;
Shimizu, T.
;
Milligan, C.
;
Petrou, S.
;
Heron, S.
;
Dibbens, L.
;
et al.
;
Ishii, R.
2013
Rare variants in single-minded 1 (SIM1) are associated with severe obesity
Ramachandrappa, S.
;
Raimondo, A.
;
Cali, A.
;
Keogh, J.
;
Henning, E.
;
Saeed, S.
;
Thompson, A.
;
Garg, S.
;
Bochukova, E.
;
Brage, S.
;
Trowse, V.
;
Wheeler, E.
;
Sullivan, A.
;
Dattani, M.
;
Clayton, P.
;
Datta, V.
;
Bruning, J.
;
Wareham, N.
;
O'Rahilly, S.
;
Peet, D.
;
et al.
Discover
Author
4
Gecz, J.
4
Heron, S.
4
Licchetta, L.
3
Afawi, Z.
3
Corbett, M.
3
Crompton, D.
3
Dibbens, L.
3
Field, M.
3
Gardner, A.
3
Hackett, A.
.
next >
Subject
23
Humans
20
Male
19
Female
12
Mutation
9
Animals
8
Genetic Predisposition to Disease
7
Child, Preschool
7
Mice
6
Child
6
Molecular Sequence Data
.
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Date issued
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2015
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