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Issue Date
Title
Author(s)
2002
A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation
Shaw, M.
;
Chiurazzi, P.
;
Romain, D.
;
Neri, G.
;
Gecz, J.
2010
A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32
Hattersley, K.
;
Laurie, K.
;
Liebelt, J.
;
Gecz, J.
;
Durkin, S.
;
Craig, J.
;
Burden, K.
Discover
Author
8
et al.
7
Haan, E.
7
Turner, G.
6
Chelly, J.
6
Kalscheuer, V.
6
Ropers, H.
5
Corbett, M.
5
Fryns, J.
5
Moraine, C.
5
Schwartz, C.
.
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Subject
38
Female
32
Mutation
23
Pedigree
22
Intellectual Disability
16
Molecular Sequence Data
14
Adult
13
Child
13
Phenotype
12
Base Sequence
12
Chromosomes, Human, X
.
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Date issued
22
2010 - 2016
29
2000 - 2009
1
1997 - 1999