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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.
1998
Autosomal dominant Klippel-Feil anomaly with cleft palate
Thompson, E.
;
Haan, E.
;
Sheffield, L.
2010
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Haan, E.
;
Gecz, J.
2005
The Hunter-McAlpine syndrome results from duplication 5q35-qter
Hunter, A.
;
DuPont, B.
;
McLaughlin, M.
;
Hinton, L.
;
Baker, E.
;
Ades, L.
;
Haan, E.
;
Schwartz, C.
2010
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
Hynes, K.
;
Tarpey, P.
;
Dibbens, L.
;
Bayly, M.
;
Berkovic, S.
;
Smith, R.
;
Al Raisi, Z.
;
Turner, S.
;
Brown, N.
;
Desai, T.
;
Haan, E.
;
Turner, G.
;
Christodoulou, J.
;
Leonard, H.
;
Gill, D.
;
Stratton, M.
;
Gecz, J.
;
Scheffer, I.
Discover
Author
1
Clarke, L.
1
Cohen, M.
1
Desai, T.
1
Dibbens, L.
1
DuPont, B.
1
et al.
1
Gaudenz, K.
1
Gill, D.
1
Gripp, K.
1
Guttmacher, A.
.
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Subject
5
Humans
4
Female
3
Child, Preschool
3
Male
2
Family
2
Radiography
2
Syndrome
1
Abnormalities, Multiple
1
Adolescent
1
Aged
.
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Date issued
3
2000 - 2010
2
1997 - 1999