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Results 1-10 of 14 (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.
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.
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
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.
2001
A whole genome scan for differences in recombination rates among three Bos taurus breeds
Thomsen, H.
;
Reinsch, N.
;
Xu, N.
;
Bennewitz, J.
;
Looft, C.
;
Grupe, S.
;
Kuhn, C.
;
Brockmann, G.
;
Schwerin, M.
;
Leyhe-Horn, B.
;
Hiendleder, S.
;
Erhardt, G.
;
Medjugorac, I.
;
Russ, I.
;
Forster, M.
;
Brenig, B.
;
Reinhardt, F.
;
Reents, R.
;
Blumel, J.
;
Averdunk, G.
;
et al.
2011
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma
Khan, K.
;
Rudkin, A.
;
Parry, D.
;
Burdon, K.
;
McKibbin, M.
;
Logan, C.
;
Abdelhamed, Z.
;
Muecke, J.
;
Fernandez-Fuentes, N.
;
Laurie, K.
;
Shires, M.
;
Fogarty, R.
;
Carr, I.
;
Poulter, J.
;
Morgan, J.
;
Mohamed, M.
;
Jafri, H.
;
Raashid, Y.
;
Meng, N.
;
Piseth, H.
;
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
Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination
Pearlman, A.
;
Loke, J.
;
Le Caignec, C.
;
White, S.
;
Chin, L.
;
Friedman, A.
;
Warr, N.
;
Willan, J.
;
Brauer, D.
;
Farmer, C.
;
Brooks, E.
;
Oddoux, C.
;
Riley, B.
;
Shajahan, S.
;
Camerino, G.
;
Homfray, T.
;
Crosby, A.
;
Couper, J.
;
David, A.
;
Greenfield, A.
;
et al.
2011
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia
Hahn, C.
;
Chong, C.
;
Carmichael, C.
;
Wilkins, E.
;
Brautigan, P.
;
Li, X.
;
Babic, M.
;
Lin, M.
;
Carmagnac, A.
;
Lee, Y.
;
Kok, C.
;
Gagliardi, L.
;
Friend, K.
;
Ekert, P.
;
Butcher, C.
;
Brown, A.
;
Lewis, I.
;
To, L.
;
Timms, A.
;
Storek, J.
;
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
3
Gecz, J.
3
Thomas, P.
2
Burdon, K.
2
Corbett, M.
2
de Vries, B.
2
Dibbens, L.
2
Gardner, A.
2
Heron, S.
2
Hodgson, B.
2
Hughes, J.
.
next >
Subject
13
Humans
11
Female
11
Male
10
Mice
10
Mutation
7
Molecular Sequence Data
5
Genetic Predisposition to Disease
4
Amino Acid Sequence
4
Base Sequence
4
Brain
.
next >
Date issued
9
2010 - 2019
5
2001 - 2009