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Results 1-10 of 138 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
1995
Fragile X syndrome and other dynamic mutation diseases
Sutherland, G.
;
Richards, R.
2000
FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations
Gecz, J.
2004
TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation
Christophe-Hobertus, C.
;
Kooy, F.
;
Gecz, J.
;
Abramowicz, M.
;
Holinski-Feder, E.
;
Schwartz, C.
;
Christophe, D.
2008
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform
Sharma, S.
;
Burdon, K.
;
Dave, A.
;
Jamieson, R.
;
Yaron, Y.
;
Billson, F.
;
van Maldergem, L.
;
Lorenz, B.
;
Gecz, J.
;
Craig, J.
1996
REPEAT OFFENDERS - SIMPLE REPEAT SEQUENCES AND COMPLEX GENETIC PROBLEMS [Review]
Richards, R.
;
Sutherland, G.
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.
2004
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency
McFarland, R.
;
Kirby, D.
;
Fowler, K.
;
Ohtake, A.
;
Ryan, M.
;
Amor, D.
;
Fletcher, J.
;
Dixon, J.
;
Collins, F.
;
Turnbull, D.
;
Taylor, R.
;
Thorburn, A.
2007
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitus
Raymond, F.
;
Tarpey, P.
;
Edkins, S.
;
Tofts, C.
;
O'Meara, S.
;
Teague, J.
;
Butler, A.
;
Stevens, C.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Dicks, E.
;
Gray, K.
;
Harrison, R.
;
Hills, K.
;
Hinton, J.
;
Jones, D.
;
Menzies, A.
;
Perry, J.
;
Raine, K.
;
et al.
2002
Biochemical and molecular analysis of mucopolysaccharidoses in Turkey
Emre, S.
;
Terzioglu, M.
;
Coskun, T.
;
Tokatli, A.
;
Ozalp, I.
;
Muller, V.
;
Hopwood, J.
2005
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey Disease) expands the spectrum of collagen-related disorders
Gensure, R.
;
Makitie, O.
;
Barclay, C.
;
Chan, C.
;
DePalma, S.
;
Bastepe, M.
;
Abuzahra, H.
;
Couper, R.
;
Mundlos, S.
;
Sillence, D.
;
Kokko, L.
;
Seidman, J.
;
Cole, W.
;
Juppner, H.
Discover
Author
47
Gecz, J.
30
Hopwood, J.
27
et al.
13
Haan, E.
13
Scheffer, I.
12
Berkovic, S.
10
Mulley, J.
9
Brooks, D.
9
Dibbens, L.
9
Weber, B.
.
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Subject
27
Child, Preschool
26
DNA Mutational Analysis
26
Intellectual Disability
24
Infant
22
Amino Acid Sequence
22
Base Sequence
22
Mental Retardation, X-Linked
21
Adolescent
19
Genotype
19
Transcription Factors
.
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Date issued
39
2010 - 2018
78
2000 - 2009
21
1995 - 1999