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Results 1-10 of 15 (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.
1999
Homozygotes for FRA16B are normal
Hocking, T.
;
Feichtinger, W.
;
Schmid, M.
;
Haan, E.
;
Baker, E.
;
Sutherland, G.
2002
The risk of mortality or cerebral palsy in twins: A collaborative population-based study
Scher, A.
;
Petterson, B.
;
Blair, E.
;
Ellenberg, J.
;
Grether, J.
;
Haan, E.
;
Reddihough, D.
;
Yeargin-Allsopp, M.
;
Nelson, K.
1996
Characterisation of four novel fibrillin-1 mutations in the Marfan syndrome
Ades, L.
;
Haan, E.
;
Colley, A.
;
Richards, R.
2006
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited
Ades, L.
;
Sullivan, K.
;
Biggin, A.
;
Haan, E.
;
Brett, M.
;
Holman, K.
;
Dixon, J.
;
Robertson, S.
;
Holmes, A.
;
Rogers, J.
;
Bennetts, B.
2016
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
van Bon, B.W.M.
;
Coe, B.P.
;
Bernier, R.
;
Green, C.
;
Gerdts, J.
;
Witherspoon, K.
;
Kleefstra, T.
;
Willemsen, M.H.
;
Kumar, R.
;
Bosco, P.
;
Fichera, M.
;
Li, D.
;
Amaral, D.
;
Cristofoli, F.
;
Peeters, H.
;
Haan, E.
;
Romano, C.
;
Mefford, H.C.
;
Scheffer, I.
;
Gecz, J.
;
et al.
1998
Autosomal dominant Klippel-Feil anomaly with cleft palate
Thompson, E.
;
Haan, E.
;
Sheffield, L.
2008
Ocular colobomata, polydactyly, cleft palate and panhypopituitarism: a new syndrome
Laforest, C.
;
Leibovitch, I.
;
Selva-Nayagam, D.
;
Crompton, J.
;
Haan, E.
1997
Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene
Sampson, J.
;
Maheshwar, M.
;
Aspinwall, R.
;
Thompson, P.
;
Cheadle, J.
;
Ravine, D.
;
Roy, S.
;
Haan, E.
;
Bernstein, J.
;
Harris, P.
2009
Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2
Ghalamkarpour, A.
;
Debauche, C.
;
Haan, E.
;
Van Regemorter, N.
;
Snzajer, Y.
;
Thomas, D.
;
Revencu, N.
;
Gillerot, Y.
;
Boon, L.
;
Vikkula, M.
Discover
Author
4
Ades, L.
2
Baker, E.
2
Chan, A.
2
et al.
1
Amaral, D.
1
Aspinwall, R.
1
Bartlett, S.
1
Bennett, E.
1
Bennetts, B.
1
Bernier, R.
.
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Subject
13
Female
9
Child
6
Child, Preschool
6
Syndrome
5
Adolescent
5
Middle Aged
5
Pregnancy
3
Abnormalities, Multiple
3
DNA Mutational Analysis
3
Infant
.
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1
2010 - 2016
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2000 - 2009
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1996 - 1999