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Results 1-10 of 88 (Search time: 0.004 seconds).
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Issue Date
Title
Author(s)
2000
FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations
Gecz, J.
2004
TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation
Christophe-Hobertus, C.
;
Kooy, F.
;
Gecz, J.
;
Abramowicz, M.
;
Holinski-Feder, E.
;
Schwartz, C.
;
Christophe, D.
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.
2008
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform
Sharma, S.
;
Burdon, K.
;
Dave, A.
;
Jamieson, R.
;
Yaron, Y.
;
Billson, F.
;
van Maldergem, L.
;
Lorenz, B.
;
Gecz, J.
;
Craig, J.
2021
Cerebral palsy with autism and ADHD: time to pay attention
Gecz, J.
;
Berry, J.G.
2005
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene
Stepp, M.
;
Cason, A.
;
Finnis, M.
;
Mangelsdorf, M.
;
Holinski-Feder, E.
;
Macgregor, D.
;
MacMillan, A.
;
Holden, J.
;
Gecz, J.
;
Stevenson, R.
;
Schwartz, C.
2003
Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency
Birrell, G.
;
Lampe, A.
;
Richmond, S.
;
Bruce, S.
;
Gecz, J.
;
Lower, K.
;
Wright, M.
2004
The molecular basis of intellectual disability: novel genes with naturally occurring mutations causing altered gene expression in the brain
Gecz, J.
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.
2000
Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome
Villard, L.
;
Fontes, M.
;
Ades, L.
;
Gecz, J.
Discover
Author
12
Haan, E.
12
Ropers, H.
11
Kalscheuer, V.
10
Fryns, J.
9
Chelly, J.
9
et al.
9
Moraine, C.
9
Shoubridge, C.
8
Shaw, M.
8
Turner, G.
.
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Subject
53
Male
48
Mutation
43
Female
29
Intellectual Disability
29
Pedigree
26
Animals
26
Molecular Sequence Data
22
Chromosomes, Human, X
21
Transcription Factors
20
Mental Retardation, X-Linked
.
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Date issued
1
2020 - 2021
33
2010 - 2019
51
2000 - 2009
3
1997 - 1999