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Results 1-10 of 17 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
1997
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
Muenke, M.
;
Gripp, K.
;
McDonald-McGinn, D.
;
Gaudenz, K.
;
Whitaker, L.
;
Bartlett, S.
;
Markowitz, R.
;
Robin, N.
;
Nwokoro, N.
;
Mulvihill, J.
;
Losken, H.
;
Mulliken, J.
;
Guttmacher, A.
;
Wilroy, R.
;
Clarke, L.
;
Hollway, G.
;
Ades, L.
;
Haan, E.
;
Mulley, J.
;
Cohen, M.
;
et al.
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.
1999
Homozygotes for FRA16B are normal
Hocking, T.
;
Feichtinger, W.
;
Schmid, M.
;
Haan, E.
;
Baker, E.
;
Sutherland, G.
1996
Clinicopathologic features of congenital aneurysms of the great vessels
Ades, L.
;
Knight, W.
;
Byard, R.
;
Bateman, J.
;
Esquivel, J.
;
Mee, R.
;
Haan, E.
;
Milewicz, D.
1996
Characterisation of four novel fibrillin-1 mutations in the Marfan syndrome
Ades, L.
;
Haan, E.
;
Colley, A.
;
Richards, R.
1999
Analysis of five Duchenne muscular dystrophy exons and gender determination using conventional duplex polymerase chain reaction on single cells
Hussey, N.
;
Donggui, H.
;
Froiland, D.
;
Hussey, D.
;
Haan, E.
;
Matthews, C.
;
Craig, J.
1998
Autosomal dominant Klippel-Feil anomaly with cleft palate
Thompson, E.
;
Haan, E.
;
Sheffield, L.
1998
SHORT syndrome: distinctive radiographic features
Haan, E.
;
Morris, L.
1999
X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation
Woffendin, H.
;
Jakins, T.
;
Jouet, M.
;
Stewart, H.
;
Landy, S.
;
Haan, E.
;
Harris, A.
;
Donnai, D.
;
Read, A.
;
Kenwrick, S.
1997
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies
D'Adamo, P.
;
Fassone, L.
;
Gedeon, A.
;
Janssen, E.
;
Bione, S.
;
Bolhuis, P.
;
Barth, P.
;
Wilson, M.
;
Haan, E.
;
Orstavik, H.
;
Patton, M.
;
Green, A.
;
Zammarchi, E.
;
Donati, M.
;
Toniolo, D.
Discover
Author
4
Ades, L.
3
Sutherland, G.
2
Chan, A.
2
Mulley, J.
1
Akkari, P.
1
Altherr, M.
1
Aspinwall, R.
1
Bain, S.
1
Baker, E.
1
Barth, P.
.
next >
Subject
15
Female
7
Adult
7
Child
5
Molecular Sequence Data
5
Pedigree
4
Abnormalities, Multiple
4
Base Sequence
4
Child, Preschool
4
Chromosome Mapping
4
Exons
.
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Date issued
3
1999
4
1998
7
1997
2
1996
1
1995