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Results 1-10 of 24 (Search time: 0.004 seconds).
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Issue Date
Title
Author(s)
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.
2007
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly
Field, M.
;
Tarpey, P.
;
Smith, R.
;
Edkins, S.
;
O'Meara, S.
;
Stevens, C.
;
Tofts, C.
;
Teague, J.
;
Butler, A.
;
Dicks, E.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Gray, K.
;
Halliday, K.
;
Hills, K.
;
Jenkinson, A.
;
Jones, D.
;
Menzies, A.
;
Mironenko, T.
;
et al.
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.
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
Alternative splicing in a presenilin 2 variant associated with Alzheimer disease
Braggin, J.E.
;
Bucks, S.A.
;
Course, M.M.
;
Smith, C.L.
;
Sopher, B.
;
Osnis, L.
;
Shuey, K.D.
;
Domoto-Reilly, K.
;
Caso, C.
;
Kinoshita, C.
;
Scherpelz, K.P.
;
Cross, C.
;
Grabowski, T.
;
Nik, S.H.M.
;
Newman, M.
;
Garden, G.A.
;
Leverenz, J.B.
;
Tsuang, D.
;
Latimer, C.
;
Gonzalez-Cuyar, L.F.
;
et al.
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.
2003
Analysis of CFTR mutation screening in cases of isolated fetal echogenic bowel in the South Australian population
Nicholls, C.
;
Nelson, P.
;
Poplawski, N.
;
Chin, S.
;
Fong, B.
;
Solly, P.
;
Fietz, M.
;
Fletcher, J.
2001
Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene
Bell, R.
;
Brice, G.
;
Child, A.
;
Murday, V.
;
Mansour, S.
;
Sandy, C.
;
Collin, J.
;
Brady, A.
;
Callen, D.
;
Burnand, K.
;
Mortimer, P.
;
Jeffery, S.
2011
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia
Corbett, M.
;
Schwake, M.
;
Bahlo, M.
;
Dibbens, L.
;
Lin, M.
;
Gandolfo, L.
;
Vears, D.
;
O'Sullivan, J.
;
Robertson, T.
;
Bayly, M.
;
Gardner, A.
;
Vlaar, A.
;
Korenke, G.
;
Bloem, B.
;
de Coo, I.
;
Verhagen, J.
;
Lehesjoki, A.
;
Gecz, J.
;
Berkovic, S.
Discover
Author
10
Mulley, J.
7
Berkovic, S.
7
et al.
6
Gecz, J.
6
Scheffer, I.
4
Dibbens, L.
4
Gardner, A.
3
Corbett, M.
3
Gedeon, A.
3
Heron, S.
.
next >
Subject
21
Female
13
Pedigree
9
Adult
8
Molecular Sequence Data
7
Amino Acid Sequence
7
Animals
7
Child
7
Middle Aged
6
DNA Mutational Analysis
6
Mice
.
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Date issued
1
2020 - 2023
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2010 - 2019
15
2001 - 2009