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Results 1-10 of 27 (Search time: 0.004 seconds).
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Issue Date
Title
Author(s)
2008
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
Dibbens, L.
;
Tarpey, P.
;
Hynes, K.
;
Bayly, M.
;
Scheffer, I.
;
Smith, R.
;
Bomar, J.
;
Sutton, E.
;
Vandeleur, L.
;
Shoubridge, C.
;
Edkins, S.
;
Turner, S.
;
Stevens, C.
;
O'Meara, S.
;
Tofts, C.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Halliday, K.
;
Jones, D.
;
et al.
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.
2017
NAD deficiency, congenital malformations, and niacin supplementation
Shi, H.
;
Enriquez, A.
;
Rapadas, M.
;
Martin, E.
;
Wang, R.
;
Moreau, J.
;
Lim, C.
;
Szot, J.
;
Ip, E.
;
Hughes, J.
;
Sugimoto, K.
;
Humphreys, D.
;
McInerney-Leo, A.
;
Leo, P.
;
Maghzal, G.
;
Halliday, J.
;
Smith, J.
;
Colley, A.
;
Mark, P.
;
Collins, F.
;
et al.
2017
Dominant protection from HLA-linked autoimmunity by antigen-specific regulatory T cells
Ooi, J.
;
Petersen, J.
;
Tan, Y.
;
Huynh, M.
;
Willett, Z.
;
Ramarathinam, S.
;
Eggenhuizen, P.
;
Loh, K.
;
Watson, K.
;
Gan, P.
;
Alikhan, M.
;
Dudek, N.
;
Handel, A.
;
Hudson, B.
;
Fugger, L.
;
Power, D.
;
Holt, S.
;
Coates, P.
;
Gregersen, J.
;
Purcell, A.
;
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.
2014
Characterization of stem-like cells in mucoepidermoid tracheal paediatric tumor
Lim, M.
;
Ooi, B.
;
Jungebluth, P.
;
Sjöqvist, S.
;
Hultman, I.
;
Lemon, G.
;
Gustafsson, Y.
;
Asmundsson, J.
;
Baiguera, S.
;
Douagi, I.
;
Gilevich, I.
;
Popova, A.
;
Haag, J.
;
Rodríguez, A.
;
Lim, J.
;
Liedén, A.
;
Nordenskjöld, M.
;
Alici, E.
;
Baker, D.
;
Unger, C.
;
et al.
;
Burns, J.
2018
Plasmacytoid dendritic cells protect from viral bronchiolitis and asthma through semaphorin 4a-mediated T reg expansion
Lynch, J.
;
Werder, R.
;
Loh, Z.
;
Sikder, M.
;
Curren, B.
;
Zhang, V.
;
Rogers, M.
;
Lane, K.
;
Simpson, J.
;
Mazzone, S.
;
Spann, K.
;
Hayball, J.
;
Diener, K.
;
Everard, M.
;
Blyth, C.
;
Forstner, C.
;
Dennis, P.
;
Murtaza, N.
;
Morrison, M.
;
Cuív, P.
;
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.
2019
Combining BH3-mimetics to target both BCL-2 and MCL1 has potent activity in pre-clinical models of acute myeloid leukemia
Moujalled, D.M.
;
Pomilio, G.
;
Ghiurau, C.
;
Ivey, A.
;
Salmon, J.
;
Rijal, S.
;
Macraild, S.
;
Zhang, L.
;
Teh, T.C.
;
Tiong, I.S.
;
Lan, P.
;
Chanrion, M.
;
Claperon, A.
;
Rocchetti, F.
;
Zichi, A.
;
Kraus-Berthier, L.
;
Wang, Y.
;
Halilovic, E.
;
Morris, E.
;
Colland, F.
;
et al.
2015
Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene
Ishibashi, M.
;
Manning, E.
;
Shoubridge, C.
;
Krecsmarik, M.
;
Hawkins, T.
;
Giacomotto, J.
;
Zhao, T.
;
Mueller, T.
;
Bader, P.
;
Cheung, S.
;
Stankiewicz, P.
;
Bain, N.
;
Hackett, A.
;
Reddy, C.
;
Mechaly, A.
;
Peers, B.
;
Wilson, S.
;
Lenhard, B.
;
Bally-Cuif, L.
;
Gecz, J.
;
et al.
Discover
Author
3
Gecz, J.
3
Hughes, J.
3
White, S.
2
Babic, M.
2
Burdon, K.
2
Chong, C.
2
de Vries, B.
2
Dibbens, L.
2
Hahn, C.
2
Lee, Y.
.
next >
Subject
20
Mice
11
Mutation
10
Child
10
Pedigree
8
Child, Preschool
7
Adult
6
Adolescent
6
Brain
5
Amino Acid Sequence
5
Disease Models, Animal
.
next >
Date issued
23
2010 - 2020
4
2002 - 2009