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Results 1-6 of 6 (Search time: 0.001 seconds).
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Issue Date
Title
Author(s)
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.
2003
Disruption of the Serine/Threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation
Kalscheuer, V.
;
Tao, J.
;
Donnelly, A.
;
Hollway, G.
;
Schwinger, E.
;
Kubart, S.
;
Menzel, C.
;
Hoeltzenbein, M.
;
Tommerup, N.
;
Eyre, H.
;
Harbord, M.
;
Haan, E.
;
Sutherland, G.
;
Ropers, H.
;
Gecz, J.
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
Eyre, H.
2
Sutherland, G.
2
Yu, S.
1
Ades, L.
1
Baker, E.
1
Bennetts, B.
1
Biggin, A.
1
Boon, L.
1
Bowden, N.
1
Bratkovic, D.
.
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Subject
6
Humans
5
Male
4
Female
3
Adolescent
3
Child
3
Intellectual Disability
2
Abnormalities, Multiple
2
Adult
2
Developmental Disabilities
2
Gene Frequency
.
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Date issued
2
2009
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2006
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2005
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2003
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2000