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Results 1-10 of 19 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2007
The original Lujan syndrome family has a novel missense mutation (p. N1007S) in the MED12 gene
Schwartz, C.
;
Tarpey, P.
;
Lubs, H.
;
Verloes, A.
;
May, M.
;
Risheg, H.
;
Friez, M.
;
Futreal, P.
;
Edkins, S.
;
Teague, J.
;
Briault, S.
;
Skinner, C.
;
Bauer-Carlin, A.
;
Simensin, R.
;
Joseph, S.
;
Jones, J.
;
Gecz, J.
;
Stratton, M.
;
Raymond, F.
;
Stevenson, R.
2019
GJB2 and GJB6 mutations in hereditary recessive non-syndromic hearing impairment in Cameroon
Tingang Wonkam, E.
;
Chimusa, E.
;
Noubiap, J.J.
;
Adadey, S.M.
;
F Fokouo, J.V.
;
Wonkam, A.
1998
Febrile seizures and generalised epilepsy associated with a mutation in the Na+-channel b1 subunit gene SCN1B
Wallace, R.
;
Wang, D.
;
Singh, R.
;
Scheffer, I.
;
George Jnr., A.
;
Phillips, H.
;
Saar, K.
;
Reis, A.
;
Johnson, E.
;
Sutherland, G.
;
Berkovic, S.
;
Mulley, J.
1995
X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome
Gedeon, A.
;
Wilson, M.
;
Colley, A.
;
Sillence, D.
;
Mulley, J.
1999
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda
Gedeon, A.
;
Colley, A.
;
Jamieson, R.
;
Thompson, E.
;
Rogers, J.
;
Sillence, D.
;
Tiller, G.
;
Mulley, J.
;
Gecz, J.
1996
Refinement of the background genetic map of Xq26-q27 and gene localisation for Borjeson-Forssman-Lehmann syndrome
Gedeon, A.
;
Kozman, H.
;
Robinson, H.
;
Pilia, G.
;
Schlessinger, D.
;
Turner, G.
;
Mulley, J.
1996
Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardation
Gedeon, A.
;
Glass, I.
;
Connor, J.
;
Mulley, J.
1999
Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM
Friend, K.
;
Crimmins, D.
;
Phan, T.
;
Sue, C.
;
Colley, A.
;
Fung, V.
;
Morris, J.
;
Sutherland, G.
;
Richards, R.
1998
Deafness due to Pro250Arg mutation of FGFR3
Hollway, G.
;
Suthers, G.
;
Battese, K.
;
Turner, A.
;
David, D.
;
Mulley, J.
1998
Gene localisation for an autosomal dominant familial periodic fever to 12p13.
Mulley, J.
;
Saar, K.
;
Hewitt, G.
;
Rueschendorf, F.
;
Phillips, H.
;
Colley, A.
;
Sillence, D.
;
Reis, A.
;
Wilson, M.
Discover
Author
10
Mulley, J.
6
Gedeon, A.
4
Colley, A.
4
Sutherland, G.
3
Gecz, J.
3
Richards, R.
3
Sillence, D.
3
Wilson, M.
2
Callen, D.
2
Phillips, H.
.
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Subject
19
Humans
17
Male
16
Female
8
Genetic Linkage
8
Molecular Sequence Data
6
Amino Acid Sequence
6
Chromosome Mapping
6
Intellectual Disability
6
X Chromosome
5
Sequence Homology, Amino Acid
.
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Date issued
2
2010 - 2019
1
2000 - 2009
16
1995 - 1999