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Results 1-9 of 9 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
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.
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.
2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
Heron, S.
;
Grinton, B.
;
Kivity, S.
;
Afawi, Z.
;
Zuberi, S.
;
Hughes, J.
;
Pridmore, C.
;
Hodgson, B.
;
Iona, X.
;
Sadleir, L.
;
Pelekanos, J.
;
Herlenius, E.
;
Goldberg-Stern, H.
;
Bassan, H.
;
Haan, E.
;
Korczyn, A.
;
Gardner, A.
;
Corbett, M.
;
Gecz, J.
;
Thomas, P.
;
et al.
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.
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.
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.
2009
A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology
Talseth-Palmer, B.
;
Bowden, N.
;
Meldrum, C.
;
Nicholl, J.
;
Thompson, E.
;
Friend, K.
;
Liebelt, J.
;
Bratkovic, D.
;
Haan, E.
;
Yu, S.
;
Scott, R.
2000
Acampomelic campomelic dysplasia with SOX9 mutation
Thong, M.
;
Scherer, G.
;
Kozlowski, K.
;
Haan, E.
;
Morris, L.
Discover
Author
2
Ades, L.
2
Yu, S.
1
Afawi, Z.
1
Aspinwall, R.
1
Baker, E.
1
Barth, P.
1
Bassan, H.
1
Bateman, J.
1
Bennetts, B.
1
Bernstein, J.
.
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Subject
9
Humans
6
Female
4
Abnormalities, Multiple
4
Adolescent
4
Child
3
Adult
3
Mutation
2
Alleles
2
Animals
2
Base Sequence
.
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Date issued
1
2010 - 2012
5
2000 - 2009
3
1996 - 1999