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Results 1-10 of 22 (Search time: 0.002 seconds).
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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.
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.
2017
Antenatal suppression of il-1 protects against inflammation-induced fetal injury and improves neonatal and developmental outcomes in mice
Nadeau-Vallée, M.
;
Chin, P.
;
Belarbi, L.
;
Brien, M.
;
Pundir, S.
;
Berryer, M.
;
Beaudry-Richard, A.
;
Madaan, A.
;
Sharkey, D.
;
Lupien-Meilleur, A.
;
Hou, X.
;
Quiniou, C.
;
Beaulac, A.
;
Boufaied, I.
;
Boudreault, A.
;
Carbonaro, A.
;
Doan, N.
;
Joyal, J.
;
Lubell, W.
;
Olson, D.
;
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.
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
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.
2013
Identification Of KLHL41 mutations implicates BTB-Kelch-Mediated Ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy
Gupta, V.
;
Ravenscroft, G.
;
Shaheen, R.
;
Todd, E.
;
Swanson, L.
;
Shiina, M.
;
Ogata, K.
;
Hsu, C.
;
Clarke, N.
;
Darras, B.
;
Farrar, M.
;
Hashem, A.
;
Manton, N.
;
Muntoni, F.
;
North, K.
;
Sandaradura, S.
;
Nishino, I.
;
Hayashi, Y.
;
Sewry, C.
;
Thompson, E.
;
et al.
2012
Glucokinase links Kruppel-like factor 6 to the regulation of hepatic insulin sensitivity in nonalcoholic fatty liver disease
Bechmann, L.
;
Gastaldelli, A.
;
Vetter, D.
;
Patman, G.
;
Pascoe, L.
;
Hannivoort, R.
;
Lee, U.
;
Fiel, I.
;
Munoz, U.
;
Ciociaro, D.
;
Lee, Y.
;
Buzzigoli, E.
;
Miele, L.
;
Hui, K.
;
Bugianesi, E.
;
Burt, A.
;
Day, C.
;
Mari, A.
;
Agius, L.
;
Walker, M.
;
et al.
2013
Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse
Bellone, R.
;
Holl, H.
;
Sealuri, V.
;
Devi, S.
;
Maddodi, N.
;
Archer, S.
;
Sandmeyer, L.
;
Ludwig, A.
;
Foerster, D.
;
Pruvost, M.
;
Reissmann, M.
;
Bortfeldt, R.
;
Adelson, D.
;
Lim, S.
;
Nelson, J.
;
Haase, B.
;
Engensteiner, M.
;
Leeb, T.
;
Forsyth, G.
;
Mienaltowski, M.
;
et al.
;
Anderson, M.G.
Discover
Author
3
Hughes, J.
2
Babic, M.
2
Chong, C.
2
Gecz, J.
2
Hahn, C.
2
Lee, Y.
2
Leo, P.
2
White, S.
1
Adelson, D.
1
Agius, L.
.
next >
Subject
21
Humans
19
Male
15
Mice
9
Mutation
7
Child
6
Adult
6
Brain
5
Child, Preschool
5
Infant
5
Mice, Inbred C57BL
.
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Date issued
4
2017
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2016
2
2015
1
2014
5
2013
3
2012
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2011
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2010