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Results 1-10 of 17 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
1998
Coexistence of Gaucher-Disease Type 1 and Joubert-Syndrome
Van Royen-Kerkhof, A.
;
Pollthe, B.
;
Kleijer, W.
;
van Diggelen, O.
;
Aerts, J.
;
Hopwood, J.
;
Beemer, F.
1995
Fragile X syndrome and other dynamic mutation diseases
Sutherland, G.
;
Richards, R.
1997
Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident
Wicking, C.
;
Shanley, S.
;
Smyth, I.
;
Gillies, S.
;
Negus, K.
;
Graham, S.
;
Suthers, G.
;
Haites, N.
;
Edwards, M.
;
Wainwright, B.
;
Chenevix Trench, G.
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.
1998
Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2
Scheffer, I.
;
Phillips, H.
;
O'Brien, C.
;
Saling, M.
;
Wrennall, J.
;
Wallace, R.
;
Mulley, J.
;
Berkovic, S.
1998
Autosomal dominant Klippel-Feil anomaly with cleft palate
Thompson, E.
;
Haan, E.
;
Sheffield, L.
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.
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.
1998
CAG repeat expansion in autosomal dominant familial spastic paraparesis - novel expansion in a subset of patients
Benson, K.
;
Horwitz, M.
;
Wolff, J.
;
Friend, K.
;
Thompson, E.
;
White, S.
;
Richards, R.
;
Raskind, W.
;
Bird, T.
1995
A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
Laing, N.
;
Wilton, S.
;
Akkari, P.
;
Dorosz, S.
;
Boundy, K.
;
Kneebone, C.
;
Blumbergs, P.
;
White, S.
;
Watkins, H.
;
Love, D.
;
Haan, E.
Discover
Author
6
Sutherland, G.
5
Haan, E.
4
Mulley, J.
4
Richards, R.
3
Berkovic, S.
3
Phillips, H.
3
Scheffer, I.
2
Baker, E.
2
Hollway, G.
2
Hopwood, J.
.
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Subject
16
Female
15
Male
6
Molecular Sequence Data
5
Adult
5
Base Sequence
5
Child, Preschool
5
Genetic Linkage
5
Syndrome
4
Animals
4
Child
.
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Date issued
2
1999
6
1998
3
1997
1
1996
5
1995