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Results 1-10 of 12 (Search time: 0.004 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.
2000
New mutations in MID1 provide support for loss of function as the cause of X-linked Optiz syndrome
Cox, T.
;
Allen, L.
;
Cox, L.
;
Hopwood, B.
;
Goodwin, B.
;
Haan, E.
;
Suthers, G.
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.
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.
2001
Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome
Kelberman, D.
;
Tyson, J.
;
Chandler, D.
;
McInerney, A.
;
Slee, J.
;
Albert, D.
;
Aymat, A.
;
Botma, M.
;
Calvert, M.
;
Goldblatt, J.
;
Haan, E.
;
Laing, N.
;
Lim, J.
;
Malcolm, S.
;
Singer, S.
;
Winter, R.
;
Bitner-Glindzicz, M.
1998
SHORT syndrome: distinctive radiographic features
Haan, E.
;
Morris, L.
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.
2008
Ocular colobomata, polydactyly, cleft palate and panhypopituitarism: a new syndrome
Laforest, C.
;
Leibovitch, I.
;
Selva-Nayagam, D.
;
Crompton, J.
;
Haan, E.
2010
CP or not CP? A review of diagnoses in a cerebral palsy register
Zarrinkalam, R.
;
Russo, R.
;
Gibson, C.
;
van Essen, P.
;
Peek, A.
;
Haan, E.
Discover
Author
1
Botma, M.
1
Brett, M.
1
Callen, D.
1
Calvert, M.
1
Chandler, D.
1
Chuzhanova, N.
1
Clarke, L.
1
Coe, B.P.
1
Cohen, M.
1
Cox, L.
.
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12
Humans
9
Female
7
Abnormalities, Multiple
7
Child
6
Adult
5
Child, Preschool
5
Pedigree
4
Intellectual Disability
3
Adolescent
3
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Date issued
2
2010 - 2016
6
2000 - 2009
4
1997 - 1999