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Results 1-5 of 5 (Search time: 0.004 seconds).
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Issue Date
Title
Author(s)
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.
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.
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.
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.
2013
Mutations in DEPDC5 cause familial focal epilepsy with variable foci
Dibbens, L.
;
de Vries, B.
;
Donatello, S.
;
Heron, S.
;
Hodgson, B.
;
Chintawar, S.
;
Crompton, D.
;
Hughes, J.
;
Bellows, S.
;
Klein, K.
;
Callenbach, P.
;
Corbett, M.
;
Gardner, A.
;
Kivity, S.
;
Iona, X.
;
Regan, B.
;
Weller, C.
;
Crimmins, D.
;
O'Brien, T.
;
Guerrero-Lopez, R.
;
et al.
Discover
Author
1
Adelson, D.
1
Al-Doujaily, H.
1
Anderson, M.G.
1
Ando, T.
1
Aoki, Y.
1
Archer, S.
1
Ayling, H.
1
Banjo, T.
1
Barnett, C.
1
Beck, J.
.
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Subject
4
Humans
3
Child, Preschool
3
Infant
3
Mice
3
Mutation
2
Adolescent
2
Child
2
Pedigree
2
Zebrafish
1
Adult
.
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