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Results 1-10 of 17 (Search time: 0.004 seconds).
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Issue Date
Title
Author(s)
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.
2017
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
Geisheker, M.
;
Heymann, G.
;
Wang, T.
;
Coe, B.
;
Turner, T.
;
Stessman, H.
;
Hoekzema, K.
;
Kvarnung, M.
;
Shaw, M.
;
Friend, K.
;
Liebelt, J.
;
Barnett, C.
;
Thompson, E.
;
Haan, E.
;
Guo, H.
;
Anderlid, B.
;
Nordgren, A.
;
Lindstrand, A.
;
Vandeweyer, G.
;
Alberti, A.
;
et al.
2018
Plasmacytoid dendritic cells protect from viral bronchiolitis and asthma through semaphorin 4a-mediated T reg expansion
Lynch, J.
;
Werder, R.
;
Loh, Z.
;
Sikder, M.
;
Curren, B.
;
Zhang, V.
;
Rogers, M.
;
Lane, K.
;
Simpson, J.
;
Mazzone, S.
;
Spann, K.
;
Hayball, J.
;
Diener, K.
;
Everard, M.
;
Blyth, C.
;
Forstner, C.
;
Dennis, P.
;
Murtaza, N.
;
Morrison, M.
;
Cuív, P.
;
et al.
2020
Genetic history from the Middle Neolithic to present on the Mediterranean island of Sardinia
Marcus, J.H.
;
Posth, C.
;
Ringbauer, H.
;
Lai, L.
;
Skeates, R.
;
Sidore, C.
;
Beckett, J.
;
Furtwängler, A.
;
Olivieri, A.
;
Chiang, C.W.K.
;
Al-Asadi, H.
;
Dey, K.
;
Joseph, T.A.
;
Liu, C.-C.
;
Der Sarkissian, C.
;
Radzevičiūtė, R.
;
Michel, M.
;
Gradoli, M.G.
;
Marongiu, P.
;
Rubino, S.
;
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.
2019
DNA hypermethylation encroachment at CpG island borders in cancer is predisposed by H3K4 monomethylation patterns
Skvortsova, K.
;
Masle-Farquhar, E.
;
Luu, P.L.
;
Song, J.Z.
;
Qu, W.
;
Zotenko, E.
;
Gould, C.M.
;
Du, Q.
;
Peters, T.J.
;
Colino-Sanguino, Y.
;
Pidsley, R.
;
Nair, S.S.
;
Khoury, A.
;
Smith, G.C.
;
Miosge, L.A.
;
Reed, J.H.
;
Kench, J.G.
;
Rubin, M.A.
;
Horvath, L.
;
Bogdanovic, O.
;
et al.
2013
Rare variants in single-minded 1 (SIM1) are associated with severe obesity
Ramachandrappa, S.
;
Raimondo, A.
;
Cali, A.
;
Keogh, J.
;
Henning, E.
;
Saeed, S.
;
Thompson, A.
;
Garg, S.
;
Bochukova, E.
;
Brage, S.
;
Trowse, V.
;
Wheeler, E.
;
Sullivan, A.
;
Dattani, M.
;
Clayton, P.
;
Datta, V.
;
Bruning, J.
;
Wareham, N.
;
O'Rahilly, S.
;
Peet, D.
;
et al.
2013
Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features
Bonnefond, A.
;
Raimondo, A.
;
Stutzmann, F.
;
Ghoussaini, M.
;
Ramachandrappa, S.
;
Bersten, D.
;
Durand, E.
;
Vatin, V.
;
Balkau, B.
;
Lantieri, O.
;
Raverdy, V.
;
Pattou, F.
;
Van Hul, W.
;
Van Gaal, L.
;
Peet, D.
;
Weill, J.
;
Miller, J.
;
Horber, F.
;
Goldstone, A.
;
Driscoll, D.
;
et al.
2008
Genome analysis of the platypus reveals unique signatures of evolution
Warren, W.
;
Hillier, L.
;
Graves, J.
;
Birney, E.
;
Ponting, C.
;
Grutzner, F.
;
Belov, K.
;
Miller, W.
;
Clarke, L.
;
Chinwall, A.
;
Yang, S.
;
Heger, A.
;
Locke, D.
;
Miethke, P.
;
Waters, P.
;
Veyrunes, F.
;
Fulton, L.
;
Fulton, B.
;
Graves, T.
;
Wallis, J.
;
et al.
Discover
Author
3
Coe, B.
3
Hughes, J.
3
Kvarnung, M.
2
de Vries, B.
2
Friend, K.
2
Hackett, A.
2
Hoekzema, K.
2
Liebelt, J.
2
Peet, D.
2
Raimondo, A.
.
next >
Subject
7
Animals
6
Mutation
5
Adult
5
Mice
5
Pedigree
4
Amino Acid Sequence
4
Child
4
Child, Preschool
4
DNA Mutational Analysis
4
Infant
.
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Date issued
2
2020 - 2023
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2010 - 2019
4
2000 - 2009
1
1999 - 1999