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Results 1-10 of 18 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
1998
Coexistence of Gaucher-Disease Type 1 and Joubert-Syndrome
Van Royen-Kerkhof, A.
;
Pollthe, B.
;
Kleijer, W.
;
van Diggelen, O.
;
Aerts, J.
;
Hopwood, J.
;
Beemer, F.
2008
A novel locus for X-linked congenital cataract on Xq24
Craig, J.
;
Friend, K.
;
Gecz, J.
;
Rattray, K.
;
Trotski, M.
;
Mackey, D.
;
Burdon, K.
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.
1998
Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2
Scheffer, I.
;
Phillips, H.
;
O'Brien, C.
;
Saling, M.
;
Wrennall, J.
;
Wallace, R.
;
Mulley, J.
;
Berkovic, S.
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.
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.
1998
Autosomal dominant Klippel-Feil anomaly with cleft palate
Thompson, E.
;
Haan, E.
;
Sheffield, L.
2004
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation
Freude, K.
;
Hoffmann, K.
;
Jensen, L.
;
Delatycki, M.
;
des Portes, V.
;
Moser, B.
;
Hamel, B.
;
van Bokhoven, H.
;
Moraine, C.
;
Fryns, J.
;
Chelly, J.
;
Gecz, J.
;
Lenzner, S.
;
Kalscheuer, V.
;
Ropers, H.
2003
Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4
Shaw, M.
;
Brunetti-Pierre, N.
;
Kadasi, L.
;
Kovacova, V.
;
van Maldergem, L.
;
De Brasi, D.
;
Salerno, M.
;
Gecz, J.
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.
Discover
Author
9
Gecz, J.
6
et al.
4
Haan, E.
3
Chelly, J.
3
Fryns, J.
3
Kalscheuer, V.
3
Moraine, C.
2
Berkovic, S.
2
Hackett, A.
2
Hamel, B.
.
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Subject
18
Humans
15
Male
13
Adult
12
Child
11
Female
9
Mutation
7
Infant
6
Adolescent
5
Intellectual Disability
5
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Date issued
4
2010 - 2018
10
2000 - 2009
4
1998 - 1999