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Results 1-10 of 26 (Search time: 0.004 seconds).
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Issue Date
Title
Author(s)
2017
Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan Anemia patient
Venugopal, P.
;
Moore, S.
;
Lawrence, D.
;
George, A.
;
Hannan, R.
;
Bray, S.
;
To, L.
;
D Andrea, R.
;
Feng, J.
;
Tirimacco, A.
;
Yeoman, A.
;
Young, C.
;
Fine, M.
;
Schreiber, A.
;
Hahn, C.
;
Barnett, C.
;
Saxon, B.
;
Scott, H.
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
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis
Ramos-Brossier, M.
;
Montani, C.
;
Lebrun, N.
;
Gritti, L.
;
Martin, C.
;
Seminatore-Nole, C.
;
Toussaint, A.
;
Moreno, S.
;
Poirier, K.
;
Dorseuil, O.
;
Chelly, J.
;
Hackett, A.
;
Gecz, J.
;
Bieth, E.
;
Faudet, A.
;
Heron, D.
;
Kooy, R.
;
Loeys, B.
;
Humeau, Y.
;
Sala, C.
;
et al.
2016
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy
Ricos, M.G.
;
Hodgson, B.L.
;
Pippucci, T.
;
Saidin, A.
;
Ong, Y.S.
;
Heron, S.E.
;
Licchetta, L.
;
Bisulli, F.
;
Bayly, M.A.
;
Hughes, J.
;
Baldassari, S.
;
Palombo, F.
;
Epilepsy Electroclinical Study Group,
;
Santucci, M.
;
Meletti, S.
;
Berkovic, S.F.
;
Rubboli, G.
;
Thomas, P.Q.
;
Scheffer, I.E.
;
Tinuper, P.
;
et al.
2016
Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism
Hughes, J.
;
Aubert, M.
;
Heatlie, J.
;
Gardner, A.
;
Gecz, J.
;
Morgan, T.
;
Belsky, J.
;
Thomas, P.
2013
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity
Hirata, H.
;
McMichael, G.
;
Haan, E.
;
MacLennan, A.
;
Yap, T.
;
Nguyen, L.
;
Shaw, M.
;
Gecz, J.
2015
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.
Jolly, L.
;
Nguyen, L.
;
Domingo, D.
;
Sun, Y.
;
Barry, S.
;
Hancarova, M.
;
Plevova, P.
;
Vlckova, M.
;
Havlovicova, M.
;
Kalscheuer, V.
;
Graziano, C.
;
Pippucci, T.
;
Bonora, E.
;
Sedlacek, Z.
;
Gecz, J.
2014
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations
Scheffer, I.
;
Heron, S.
;
Regan, B.
;
Mandelstam, S.
;
Crompton, D.
;
Hodgson, B.
;
Licchetta, L.
;
Provini, F.
;
Bisulli, F.
;
Vadlamudi, L.
;
Gecz, J.
;
Connelly, A.
;
Tinuper, P.
;
Ricos, M.
;
Berkovic, S.
;
Dibbens, L.
2016
Autosomal dominant hypocalcaemia due to a novel CASR mutation: clinical and genetic implications
Gagliardi, L.
;
Burt, M.
;
Feng, J.
;
Poplawski, N.
;
Scott, H.
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.
Discover
Author
13
Gecz, J.
11
et al.
6
Gardner, A.
5
Berkovic, S.
5
Corbett, M.
5
Dibbens, L.
4
Haan, E.
4
Heron, S.
4
Hughes, J.
3
Hahn, C.
.
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Subject
26
Humans
21
Female
21
Male
11
Animals
8
Mice
8
Molecular Sequence Data
7
Adult
7
Amino Acid Sequence
6
Child
5
Base Sequence
.
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