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Results 1-10 of 30 (Search time: 0.004 seconds).
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Issue Date
Title
Author(s)
1998
A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy.
Donnelly, A.
;
Haan, E.
;
Manson, J.
;
Mulley, J.
1998
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24
Phillips, H.
;
Scheffer, I.
;
Crossland, K.
;
Bhatia, K.
;
Fish, D.
;
Marsden, C.
;
Howell, S.
;
Stephenson, J.
;
Tolmie, J.
;
Plazzi, G.
;
Eeg-Olofsson, O.
;
Singh, R.
;
Lopes-Cendes, I.
;
Andermann, E.
;
Berkovic, S.
;
Mulley, J.
2002
A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype
Cundy, T.
;
Hegde, M.
;
Naot, D.
;
Chong, B.
;
King, A.
;
Wallace, R.
;
Mulley, J.
;
Love, D.
;
Seidel, J.
;
Fawkner, M.
;
Banovic, T.
;
Callon, K.
;
Grey, A.
;
Reid, I.
;
Middleton-Hardie, C.
;
Cornish, J.
2002
Sodium-channel defects in benign familial neonatal-infantile seizures
Heron, S.
;
Crossland, K.
;
Andermann, E.
;
Phillips, H.
;
Hall, A.
;
Bleasel, A.
;
Shevell, M.
;
Mercho, S.
;
Seni, M.
;
Guiot, M.
;
Mulley, J.
;
Berkovic, S.
;
Scheffer, I.
2007
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
Tarpey, P.
;
Raymond, F.
;
Nguyen, L.
;
Rodriguez, J.
;
Hackett, A.
;
Vandeleur, L.
;
Smith, R.
;
Shoubridge, C.
;
Edkins, S.
;
Stevens, C.
;
O'Meara, S.
;
Tofts, C.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Halliday, K.
;
Hills, K.
;
Jones, D.
;
Mironenko, T.
;
Perry, J.
;
et al.
1995
Detection of circulating tumor cells in colorectal cancer by Immunobead-PCR is a sensitive prognostic marker for relapse of disease
Hardingham, J.
;
Kotasek, D.
;
Sage, R.
;
Eaton, M.
;
Pascoe, V.
;
Dobrovic, A.
2017
NAD deficiency, congenital malformations, and niacin supplementation
Shi, H.
;
Enriquez, A.
;
Rapadas, M.
;
Martin, E.
;
Wang, R.
;
Moreau, J.
;
Lim, C.
;
Szot, J.
;
Ip, E.
;
Hughes, J.
;
Sugimoto, K.
;
Humphreys, D.
;
McInerney-Leo, A.
;
Leo, P.
;
Maghzal, G.
;
Halliday, J.
;
Smith, J.
;
Colley, A.
;
Mark, P.
;
Collins, F.
;
et al.
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.
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.
2023
TP53 mutation variant allele frequency of ≥10% is associated with poor prognosis in therapy-related myeloid neoplasms
Shah, M.V.
;
Tran, E.N.H.
;
Shah, S.
;
Chhetri, R.
;
Baranwal, A.
;
Ladon, D.
;
Shultz, C.
;
Al-Kali, A.
;
Brown, A.L.
;
Chen, D.
;
Scott, H.S.
;
Greipp, P.
;
Thomas, D.
;
Alkhateeb, H.B.
;
Singhal, D.
;
Gangat, N.
;
Kumar, S.
;
Patnaik, M.M.
;
Hahn, C.N.
;
Kok, C.H.
;
et al.
Discover
Author
13
Mulley, J.
8
Berkovic, S.
7
Scheffer, I.
6
et al.
6
Gecz, J.
4
Dibbens, L.
4
Gardner, A.
4
Gedeon, A.
4
Sutherland, G.
3
Colley, A.
.
next >
Subject
16
Pedigree
12
Molecular Sequence Data
10
Adult
10
Amino Acid Sequence
9
Child
9
Middle Aged
8
Animals
7
Adolescent
7
Mice
6
DNA Mutational Analysis
.
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Date issued
1
2020 - 2023
9
2010 - 2019
13
2000 - 2009
7
1995 - 1999