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Results 1-10 of 12 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
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.
1996
Characterisation of four novel fibrillin-1 mutations in the Marfan syndrome
Ades, L.
;
Haan, E.
;
Colley, A.
;
Richards, R.
2002
The molecular basis of cystathionine b-synthase deficiency in Australian patients: Genotype-phenotype correlations and response to treatment
Gaustadnes, M.
;
Wilcken, B.
;
Oliveriusova, J.
;
McGill, J.
;
Fletcher, J.
;
Kraus, J.
;
Wilcken, D.
2008
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
Gilfillan, G.
;
Selmer, K.
;
Roxrud, I.
;
Smith, R.
;
Kyllerman, M.
;
Eiklid, K.
;
Kroken, M.
;
Mattingsdal, M.
;
Egeland, T.
;
Stenmark, H.
;
Sjoholm, H.
;
Server, A.
;
Samuelsson, L.
;
Christianson, A.
;
Tarpey, P.
;
Whibley, A.
;
Stratton, M.
;
Futreal, P.
;
Teague, J.
;
Edkins, S.
;
et al.
2005
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
Jensen, L.
;
Amende, M.
;
Gurok, U.
;
Moser, B.
;
Gimmel, V.
;
Tzschach, A.
;
Janecke, A.
;
Tariverdian, G.
;
Chelly, J.
;
Fryns, J.
;
Van Esch, H.
;
Kleefstra, T.
;
Hamel, B.
;
Moraine, C.
;
Gecz, J.
;
Turner, G.
;
Reinhardt, R.
;
Kalscheuer, V.
;
Ropers, H.
;
Lenzer, S.
1997
Molecular defects in Sanfilippo syndrome type A
Blanch, L.
;
Weber, B.
;
Guo, X.H.
;
Scott, H.
;
Hopwood, J.
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.
2008
Somatic mutations in GLI3 can cause hypothalamic hamartoma and gelastic seizures
Wallace, R.
;
Freeman, J.
;
Shouri, M.
;
Izzillo, P.
;
Rosenfield, J.
;
Mulley, J.
;
Harvey, A.
;
Berkovic, S.
2009
Collagen type III alpha 1 is a gastro-oesophageal reflux disease susceptibility gene and a male risk factor for hiatus hernia
Asling, B.
;
Jirholt, J.
;
Hammond, P.
;
Knutsson, M.
;
Walentinsson, A.
;
Davidson, G.
;
Agreus, L.
;
Lehmann, A.
;
Lagerstrom-Fermer, M.
2009
SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype
Spurlock, G.
;
Bennett, E.
;
Chuzhanova, N.
;
Thomas, N.
;
H-Ping, J.
;
Side, L.
;
Davies, S.
;
Haan, E.
;
Kerr, B.
;
Huson, S.
;
Upadhyaya, M.
Discover
Author
3
Gecz, J.
2
Chelly, J.
2
et al.
2
Haan, E.
1
Acherman, J.
1
Ades, L.
1
Agreus, L.
1
Amende, M.
1
Archer, H.
1
Asling, B.
.
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10
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7
Adult
7
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6
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4
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Infant, Newborn
4
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