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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.
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.
1995
Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome
Ades, L.
;
Morris, L.
;
Power, R.
;
Wilson, M.
;
Haan, E.
;
Bateman, J.
;
Milewicz, D.
;
Sillence, D.
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.
1995
Hydrometrocolpos and segmental colonic dilatation in a girl with megacystis-microcolon-intestinal hypoperistalsis syndrome
Dewan, P.
;
Brown, N.
;
Murthy, D.
;
Dnaga-Christian, B.
;
Haan, E.
;
Byard, R.
;
Watters, D.
2000
Acampomelic campomelic dysplasia with SOX9 mutation
Thong, M.
;
Scherer, G.
;
Kozlowski, K.
;
Haan, E.
;
Morris, L.
Discover
Author
3
Ades, L.
3
Morris, L.
2
Bateman, J.
2
Byard, R.
2
Milewicz, D.
1
Bartlett, S.
1
Brown, N.
1
Clarke, L.
1
Cohen, M.
1
Dewan, P.
.
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Subject
7
Humans
5
Female
5
Male
4
Abnormalities, Multiple
3
Child
3
Syndrome
2
Adult
2
Bone and Bones
2
Brain
2
Child, Preschool
.
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Date issued
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2000
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1998
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1997
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1996
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1995