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Results 1-10 of 14 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
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.
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.
2013
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity
Hirata, H.
;
McMichael, G.
;
Haan, E.
;
MacLennan, A.
;
Yap, T.
;
Nguyen, L.
;
Shaw, M.
;
Gecz, J.
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.
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.
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.
2005
Frequency of truly cryptic subtelomere abnormalities - a study of 534 patients and literature review
Yu, S.
;
Baker, E.
;
Hinton, L.
;
Eyre, H.
;
Waters, W.
;
Higgins, S.
;
Sutherland, G.
;
Haan, E.
Discover
Author
4
Ades, L.
2
Baker, E.
2
Bateman, J.
2
Byard, R.
2
Dixon, J.
2
Hinton, L.
2
Milewicz, D.
2
Morris, L.
2
Wilson, M.
1
Albert, D.
.
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Subject
11
Male
10
Female
8
Syndrome
5
Pedigree
4
Child
4
Infant
4
Intellectual Disability
4
Radiography
3
Adolescent
3
Adult
.
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Date issued
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2010 - 2013
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2000 - 2009
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1995 - 1999