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Results 1-8 of 8 (Search time: 0.004 seconds).
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Issue Date
Title
Author(s)
1998
A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy.
Donnelly, A.
;
Haan, E.
;
Manson, J.
;
Mulley, J.
1997
High resolution characterisation of an interstitial deletion of less than 1.9Mb at 4p16.3 associated with Wolf-Hirschhorn Syndrome
Fang, Y.
;
Bain, S.
;
Haan, E.
;
Eyre, H.
;
MacDonald, M.
;
Wright, T.
;
Altherr, M.
;
Riess, O.
;
Sutherland, G.
;
Callen, D.
2003
The clinical geneticist and the "new genetics"
Haan, E.
2017
YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction
Gabriele, M.
;
Vulto-van Silfhout, A.
;
Germain, P.
;
Vitriolo, A.
;
Kumar, R.
;
Douglas, E.
;
Haan, E.
;
Kosaki, K.
;
Takenouchi, T.
;
Rauch, A.
;
Steindl, K.
;
Frengen, E.
;
Misceo, D.
;
Pedurupillay, C.
;
Stromme, P.
;
Rosenfeld, J.
;
Shao, Y.
;
Craigen, W.
;
Schaaf, C.
;
Rodriguez-Buritica, D.
;
et al.
2017
Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)
Javadiyan, S.
;
Craig, J.
;
Sharma, S.
;
Lower, K.
;
Casey, T.
;
Haan, E.
;
Souzeau, E.
;
Burdon, K.
2017
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
Geisheker, M.
;
Heymann, G.
;
Wang, T.
;
Coe, B.
;
Turner, T.
;
Stessman, H.
;
Hoekzema, K.
;
Kvarnung, M.
;
Shaw, M.
;
Friend, K.
;
Liebelt, J.
;
Barnett, C.
;
Thompson, E.
;
Haan, E.
;
Guo, H.
;
Anderlid, B.
;
Nordgren, A.
;
Lindstrand, A.
;
Vandeweyer, G.
;
Alberti, A.
;
et al.
1996
Gene localisation for Sutherland-Haan syndrome (SHS:MIM 309470)
Gedeon, A.
;
Haan, E.
;
Mulley, J.
1995
FRAXE and mental retardation
Mulley, J.
;
Yu, S.
;
Loesch, D.
;
Hay, D.
;
Donnelly, A.
;
Gedeon, A.
;
Carbonell, P.
;
Lopez, I.
;
Glover, G.
;
Garbarron, I.
;
Yu, P.
;
Baker, E.
;
Haan, E.
;
Hockey, A.
;
Knight, S.
;
Daview, K.
;
Richards, R.
;
Sutherland, G.
Discover
Author
3
Mulley, J.
2
Donnelly, A.
2
et al.
2
Gedeon, A.
2
Sutherland, G.
1
Alberti, A.
1
Altherr, M.
1
Anderlid, B.
1
Bain, S.
1
Baker, E.
.
next >
Subject
6
Humans
5
Female
5
Male
3
X Chromosome
2
Chromosome Mapping
2
In Situ Hybridization, Fluorescence
2
Intellectual Disability
2
Polymerase Chain Reaction
2
Syndrome
1
Abnormalities, Multiple
.
next >
Date issued
3
2010 - 2017
1
2000 - 2009
4
1995 - 1999