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Results 1-10 of 16 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
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.
2014
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Coe, B.
;
Witherspoon, K.
;
Rosenfeld, J.
;
van Bon, B.
;
Vulto-van Silfhout, A.
;
Bosco, P.
;
Friend, K.
;
Baker, C.
;
Buono, S.
;
Vissers, L.
;
Schuurs-Hoeijmakers, J.
;
Hoischen, A.
;
Pfundt, R.
;
Krumm, N.
;
Carvill, G.
;
Li, D.
;
Amaral, D.
;
Brown, N.
;
Lockhart, P.
;
Scheffer, I.
;
et al.
2012
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
Huang, L.
;
Jolly, L.
;
Willis-Owen, S.
;
Gardner, A.
;
Sharma, R.
;
Douglas, E.
;
Shoubridge, C.
;
Wieczorek, D.
;
Tzschach, A.
;
Cohen, M.
;
Hackett, A.
;
Field, M.
;
Froyen, G.
;
Hu, H.
;
Haas, S.
;
Ropers, H.
;
Kalscheuer, V.
;
Corbett, M.
;
Gecz, J.
2010
Dissemination and genetic context analysis of bla(VIM-6) among Pseudomonas aeruginosa isolates in Asian-Pacific Nations
Castanheira, M.
;
Bell, J.
;
Turnidge, J.
;
Mendes, R.
;
Jones, R.
2010
GM-CSF is an essential regulator of T cell activation competence in uterine dendritic cells during early pregnancy in mice
Moldenhauer, L.
;
Keenihan, S.
;
Hayball, J.
;
Robertson, S.
2013
A label-free selected reaction monitoring workflow identifies a subset of pregnancy specific glycoproteins as potential predictive markers of early-onset pre-eclampsia
Blankley, R.
;
Fisher, C.
;
Westwood, M.
;
North, R.
;
Baker, P.
;
Walker, M.
;
Williamson, A.
;
Whetton, A.
;
Lin, W.
;
McCowan, L.
;
Roberts, C.
;
Cooper, G.
;
Unwin, R.
;
Myers, J.
2011
Gaucher disease in sheep
Karageorgos, L.
;
Lancaster, M.
;
Nimmo, J.
;
Hopwood, J.
2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
Heron, S.
;
Grinton, B.
;
Kivity, S.
;
Afawi, Z.
;
Zuberi, S.
;
Hughes, J.
;
Pridmore, C.
;
Hodgson, B.
;
Iona, X.
;
Sadleir, L.
;
Pelekanos, J.
;
Herlenius, E.
;
Goldberg-Stern, H.
;
Bassan, H.
;
Haan, E.
;
Korczyn, A.
;
Gardner, A.
;
Corbett, M.
;
Gecz, J.
;
Thomas, P.
;
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
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome
Gecz, J.
Discover
Author
6
Gecz, J.
5
et al.
3
Scheffer, I.
2
Bayly, M.
2
Berkovic, S.
2
Brown, N.
2
Christodoulou, J.
2
Corbett, M.
2
Dibbens, L.
2
Gardner, A.
.
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Subject
14
Humans
10
Amino Acid Sequence
10
Female
8
Base Sequence
7
Animals
7
Male
7
Mutation
6
Sequence Homology, Amino Acid
5
Mice
5
Pedigree
.
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