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Issue Date
Title
Author(s)
2002
Evolution of the human X - a smart and sexy chromosome that controls speciation and development
Graves, J.
;
Gecz, J.
;
Hameister, H.
2003
Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndrome
Baumstark, A.
;
Lower, K.
;
Sinkus, A.
;
Andriuskeveviciute, I.
;
Jurkeniene, L.
;
Gecz, J.
;
Just, W.
2009
Börjeson-Forssman-Lehmann Syndrome
Crawford, J.
;
Partington, M.
;
Corbett, M.
;
Lower, K.
;
Gecz, J.
;
Beales, P.
;
Farooqi, I.
;
O'Rahilly, S.
2000
Gene structure and expression study of the SEDL gene for Spondyloepiphyseal Dysplasia Tarda
Gecz, J.
;
Hillman, M.
;
Gedeon, A.
;
Cox, T.
;
Baker, E.
;
Mulley, J.
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.
2001
Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for x-linked mental retardation: Mutation screening in Borjeson-Forssman-Lehmann syndrome and MRX27
Lower, K.
;
Gecz, J.
2006
ARX: a gene for all seasons
Gecz, J.
;
Cloosterman, D.
;
Partington, M.
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Author
11
Fryns, J.
10
Moraine, C.
10
Turner, G.
9
Partington, M.
9
Ropers, H.
8
Chelly, J.
8
Kalscheuer, V.
7
Lower, K.
7
Schwartz, C.
7
Van Esch, H.
.
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Subject
51
Humans
29
Male
29
Mutation
20
Female
20
Pedigree
19
Molecular Sequence Data
18
Chromosomes, Human, X
16
Intellectual Disability
16
Mental Retardation, X-Linked
15
Transcription Factors
.
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2009
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2002
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2000
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