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Issue Date
Title
Author(s)
2002
Sodium-channel defects in benign familial neonatal-infantile seizures
Heron, S.
;
Crossland, K.
;
Andermann, E.
;
Phillips, H.
;
Hall, A.
;
Bleasel, A.
;
Shevell, M.
;
Mercho, S.
;
Seni, M.
;
Guiot, M.
;
Mulley, J.
;
Berkovic, S.
;
Scheffer, I.
2019
Genomic subtyping and therapeutic targeting of acute erythroleukemia
Iacobucci, I.
;
Wen, J.
;
Meggendorfer, M.
;
Choi, J.K.
;
Shi, L.
;
Pounds, S.B.
;
Carmichael, C.L.
;
Masih, K.E.
;
Morris, S.M.
;
Lindsley, R.C.
;
Janke, L.J.
;
Alexander, T.B.
;
Song, G.
;
Qu, C.
;
Li, Y.
;
Payne-Turner, D.
;
Tomizawa, D.
;
Kiyokawa, N.
;
Valentine, M.
;
Valentine, V.
;
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.
2007
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor
Ali, A.
;
Christie, P.
;
Grigorieva, I.
;
Harding, B.
;
Van Esch, H.
;
Ahmed, S.
;
Bitner-Glindzicz, M.
;
Blind, E.
;
Bloch, C.
;
Christin, P.
;
Clayton, P.
;
Gecz, J.
;
Gilbert-Dussardier, B.
;
Guillen-Navarro, E.
;
Hackett, A.
;
Halac, I.
;
Hendy, G.
;
Lalloo, F.
;
Mache, C.
;
Mughal, Z.
;
et al.
2005
Early onset seizures and Rett-like features associated with mutations in CDKL5
Evans, J.
;
Archer, H.
;
Colley, J.
;
Ravn, K.
;
Nielsen, J.
;
Kerr, A.
;
Williams, E.
;
Christodoulou, J.
;
Gecz, J.
;
Jardine, P.
;
Wright, M.
;
Pilz, D.
;
Lazarou, L.
;
Cooper, D.
;
Sampson, J.
;
Butler, R.
;
Whatley, S.
;
Clarke, A.
2012
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing
Calvo, S.
;
Compton, A.
;
Hershman, S.
;
Lim, S.
;
Lieber, D.
;
Tucker, E.
;
Laskowski, A.
;
Garone, C.
;
Liu, S.
;
Jaffe, D.
;
Christodoulou, J.
;
Fletcher, J.
;
Bruno, D.
;
Goldblatt, J.
;
DiMauro, S.
;
Thorburn, D.
;
Mootha, V.
2002
Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B
Wallace, R.
;
Scheffer, I.
;
Parasivam, G.
;
Barnett, S.
;
Wallace, G.
;
Sutherland, G.
;
Berkovic, S.
;
Mulley, J.
2018
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder
Frints, S.G.M.
;
Ozanturk, A.
;
RodrÃguez Criado, G.
;
Grasshoff, U.
;
de Hoon, B.
;
Field, M.
;
Manouvrier-Hanu, S.
;
E Hickey, S.
;
Kammoun, M.
;
Gripp, K.W.
;
Bauer, C.
;
Schroeder, C.
;
Toutain, A.
;
Mihalic Mosher, T.
;
Kelly, B.J.
;
White, P.
;
Dufke, A.
;
Rentmeester, E.
;
Moon, S.
;
Koboldt, D.C.
;
et al.
Discover
Author
4
et al.
2
Berkovic, S.
2
Christodoulou, J.
2
Gecz, J.
2
Mulley, J.
2
Scheffer, I.
1
Ahmed, S.
1
Alexander, T.B.
1
Ali, A.
1
Andermann, E.
.
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Subject
8
Female
8
Male
7
Infant
5
Adolescent
4
Adult
4
Pedigree
2
Amino Acid Sequence
2
Amino Acid Substitution
2
Animals
2
Base Sequence
.
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Date issued
4
2010 - 2019
4
2002 - 2009