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Results 1-10 of 14 (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.
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.
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
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome
Aoki, Y.
;
Niihori, T.
;
Banjo, T.
;
Okamoto, N.
;
Mizuno, S.
;
Kurosawa, K.
;
Ogata, T.
;
Takada, F.
;
Yano, M.
;
Ando, T.
;
Hoshika, T.
;
Barnett, C.
;
Ohashi, H.
;
Kawame, H.
;
Hasegawa, T.
;
Okutani, T.
;
Nagashima, T.
;
Hasegawa, S.
;
Funayama, R.
;
Nagashima, T.
;
et al.
2010
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
Giannandrea, M.
;
Bianchi, V.
;
Mignogna, M.
;
Sirri, A.
;
Carrabino, S.
;
D'Elia, E.
;
Vecellio, M.
;
Russo, S.
;
Cogliati, F.
;
Larizza, L.
;
Ropers, H.
;
Tzschach, A.
;
Kalscheuer, V.
;
Oehl-Jaschkowitz, B.
;
Skinner, C.
;
Schwartz, C.
;
Gecz, J.
;
Van Esch, H.
;
Raynaud, M.
;
Chelly, J.
;
et al.
2010
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
Tischfield, M.
;
Baris, H.
;
Wu, C.
;
Rudolph, G.
;
van Maldergem, L.
;
He, W.
;
Chan, W.
;
Andrews, C.
;
Demer, J.
;
Robertson, R.
;
Mackey, D.
;
Ruddle, J.
;
Bird, T.
;
Gottlob, I.
;
Pieh, C.
;
Traboulsi, E.
;
Pomeroy, S.
;
Hunter, D.
;
Soul, J.
;
Newlin, A.
;
et al.
Discover
Author
3
Hughes, J.
1
Agius, L.
1
Al-Doujaily, H.
1
Alici, E.
1
Alikhan, M.
1
Ando, T.
1
Andrews, C.
1
Aoki, Y.
1
Arboleda, V.
1
Asmundsson, J.
.
next >
Subject
14
Animals
7
Child
6
Mutation
5
Adult
5
Child, Preschool
5
Mice, Inbred C57BL
5
Mice, Transgenic
4
Brain
4
Disease Models, Animal
4
Infant
.
next >
Date issued
2
2018
2
2017
1
2016
1
2014
3
2013
2
2012
1
2011
2
2010