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Issue Date
Title
Author(s)
1998
Autosomal dominant Klippel-Feil anomaly with cleft palate
Thompson, E.
;
Haan, E.
;
Sheffield, L.
1998
SHORT syndrome: distinctive radiographic features
Haan, E.
;
Morris, L.
2012
Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene
Nagy, R.
;
Wang, H.
;
Albrecht, B.
;
Wieczorek, D.
;
Gillessen-Kaesbach, G.
;
Haan, E.
;
Meinecke, P.
;
de la Chapelle, A.
;
Westman, J.
2000
Breast cancer screening uptake in women at increased risk of developing hereditary breast cancer
Meiser, B.
;
Butow, P.
;
Barratt, A.
;
Friedlander, M.
;
Kirk, J.
;
Gaff, C.
;
Haan, E.
;
Aittomaki, K.
;
Tucker, K.
2012
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability
Voineagu, J.
;
Huang, L.
;
Winden, K.
;
Lazaro, M.
;
Haan, E.
;
Nelson, J.
;
McGaughran, J.
;
Nguyen, L.
;
Friend, K.
;
Hackett, A.
;
Field, M.
;
Gecz, J.
;
Geschwind, D.
1999
X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation
Woffendin, H.
;
Jakins, T.
;
Jouet, M.
;
Stewart, H.
;
Landy, S.
;
Haan, E.
;
Harris, A.
;
Donnai, D.
;
Read, A.
;
Kenwrick, S.
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.
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
FMR2 expression in families with FRAXE mental retardation
Gecz, J.
;
Oostra, B.
;
Hockey, A.
;
Carbonell, P.
;
Turner, G.
;
Haan, E.
;
Sutherland, G.
;
Mulley, J.
2008
Ocular colobomata, polydactyly, cleft palate and panhypopituitarism: a new syndrome
Laforest, C.
;
Leibovitch, I.
;
Selva-Nayagam, D.
;
Crompton, J.
;
Haan, E.
Discover
Author
13
Gecz, J.
12
Thompson, E.
9
Ades, L.
9
Chan, A.
9
et al.
6
Sutherland, G.
6
Suthers, G.
5
Butow, P.
5
Eyre, H.
5
Friend, K.
.
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Subject
64
Humans
50
Female
41
Male
25
Adult
18
Child
15
Pedigree
15
Syndrome
13
Abnormalities, Multiple
13
Child, Preschool
13
Mutation
.
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Date issued
24
2010 - 2016
35
2000 - 2009
32
1995 - 1999