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Results 1-10 of 19 (Search time: 0.005 seconds).
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Issue Date
Title
Author(s)
2016
TBC1D24 genotype-phenotype correlation
Balestrini, S.
;
Milh, M.
;
Castiglioni, C.
;
Lüthy, K.
;
Finelli, M.
;
Verstreken, P.
;
Cardon, A.
;
Stražišar, B.
;
Holder, J.
;
Lesca, G.
;
Mancardi, M.
;
Poulat, A.
;
Repetto, G.
;
Banka, S.
;
Bilo, L.
;
Birkeland, L.
;
Bosch, F.
;
Brockmann, K.
;
Cross, J.
;
Doummar, D.
;
et al.
2019
Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia
Gorman, K.M.
;
Meyer, E.
;
Grozeva, D.
;
Spinelli, E.
;
McTague, A.
;
Sanchis-Juan, A.
;
Carss, K.J.
;
Bryant, E.
;
Reich, A.
;
Schneider, A.L.
;
Pressler, R.M.
;
Simpson, M.A.
;
Debelle, G.D.
;
Wassmer, E.
;
Morton, J.
;
Sieciechowicz, D.
;
Jan-Kamsteeg, E.
;
Paciorkowski, A.R.
;
King, M.D.
;
Cross, J.H.
;
et al.
2014
Inactivating mutations in NPC1L1 and protection from coronary heart disease
Stitziel, N.O.
;
Won, H.H.
;
Morrison, A.C.
;
Peloso, G.M.
;
Do, R.
;
Lange, L.A.
;
Fontanillas, P.
;
Gupta, N.
;
Duga, S.
;
Goel, A.
;
Farrall, M.
;
Saleheen, D.
;
Ferrario, P.
;
König, I.
;
Asselta, R.
;
Merlini, P.A.
;
Marziliano, N.
;
Notarangelo, M.F.
;
Schick, U.
;
Auer, P.
;
et al.
2019
Chromosomal abnormalities and prognosis in NPM1-mutated acute myeloid leukemia: a pooled analysis of individual patient data from nine international cohorts
Angenendt, L.
;
Röllig, C.
;
Montesinos, P.
;
Martínez-Cuadrón, D.
;
Barragan, E.
;
García, R.
;
Botella, C.
;
Martínez, P.
;
Ravandi, F.
;
Kadia, T.
;
Kantarjian, H.M.
;
Cortes, J.
;
Juliusson, G.
;
Lazarevic, V.
;
Höglund, M.
;
Lehmann, S.
;
Recher, C.
;
Pigneux, A.
;
Bertoli, S.
;
Dumas, P.Y.
;
et al.
2019
Myocilin gene Gln368Ter variant penetrance and association with glaucoma in population-based and registry-based studies
Han, X.
;
Souzeau, E.
;
Ong, J.S.
;
An, J.
;
Siggs, O.M.
;
Burdon, K.P.
;
Best, S.
;
Goldberg, I.
;
Healey, P.R.
;
Graham, S.L.
;
Ruddle, J.B.
;
Mills, R.A.
;
Landers, J.
;
Galanopoulos, A.
;
White, A.J.R.
;
Casson, R.
;
Mackey, D.A.
;
Hewitt, A.W.
;
Gharahkhani, P.
;
Craig, J.E.
;
et al.
2019
Genomic subtyping and therapeutic targeting of acute erythroleukemia
Iacobucci, I.
;
Wen, J.
;
Meggendorfer, M.
;
Choi, J.K.
;
Shi, L.
;
Pounds, S.B.
;
Carmichael, C.L.
;
Masih, K.E.
;
Morris, S.M.
;
Lindsley, R.C.
;
Janke, L.J.
;
Alexander, T.B.
;
Song, G.
;
Qu, C.
;
Li, Y.
;
Payne-Turner, D.
;
Tomizawa, D.
;
Kiyokawa, N.
;
Valentine, M.
;
Valentine, V.
;
et al.
2021
Clonal evolution and clinical implications of genetic abnormalities in blastic transformation of chronic myeloid leukaemia
Ochi, Y.
;
Yoshida, K.
;
Huang, Y.-J.
;
Kuo, M.-C.
;
Nannya, Y.
;
Sasaki, K.
;
Mitani, K.
;
Hosoya, N.
;
Hiramoto, N.
;
Ishikawa, T.
;
Branford, S.
;
Shanmuganathan, N.
;
Ohyashiki, K.
;
Takahashi, N.
;
Takaku, T.
;
Tsuchiya, S.
;
Kanemura, N.
;
Nakamura, N.
;
Ueda, Y.
;
Yoshihara, S.
;
et al.
2013
A novel prion disease associated with diarrhea and autonomic neuropathy
Mead, S.
;
Gandhi, S.
;
Beck, J.
;
Caine, D.
;
Gallujipali, D.
;
Carswell, C.
;
Hyare, H.
;
Joiner, S.
;
Ayling, H.
;
Lashley, T.
;
Linehan, J.M.
;
Al-Doujaily, H.
;
Sharps, B.
;
Revesz, T.
;
Sandberg, M.K.
;
Reilly, M.M.
;
Koltzenburg, M.
;
Forbes, A.
;
Rudge, P.
;
Brandner, S.
;
et al.
2013
PIK3CA and PTEN gene and exon mutation-specific clinicopathologic and molecular associations in colorectal cancer
Day, F.
;
Jorissen, R.
;
Lipton, L.
;
Mouradov, D.
;
Sakthianandeswaren, A.
;
Christie, M.
;
Li, S.
;
Tsui, C.
;
Tie, J.
;
Desai, J.
;
Xu, Z.
;
Molloy, P.
;
Whitehall, V.
;
Leggett, B.
;
Jones, I.
;
McLaughlin, S.
;
Ward, R.
;
Hawkins, N.
;
Ruszkiewicz, A.
;
Moore, J.
;
et al.
2020
Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer
Wong, M.
;
Mayoh, C.
;
Lau, L.M.S.
;
Khuong-Quang, D.-A.
;
Pinese, M.
;
Kumar, A.
;
Barahona, P.
;
Wilkie, E.E.
;
Sullivan, P.
;
Bowen-James, R.
;
Syed, M.
;
Martincorena, I.
;
Abascal, F.
;
Sherstyuk, A.
;
Bolanos, N.A.
;
Baber, J.
;
Priestley, P.
;
Dolman, M.E.M.
;
Fleuren, E.D.G.
;
Gauthier, M.-E.
;
et al.
Discover
Author
2
Christie, M.
2
Cortes, J.
2
Day, F.
2
Desai, J.
2
Hawkins, N.
2
Jones, I.
2
Jorissen, R.
2
Li, S.
2
Lipton, L.
2
McLaughlin, S.
.
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19
Humans
11
Adult
10
Middle Aged
8
Adolescent
8
Aged
6
Aged, 80 and over
6
Child
6
Child, Preschool
6
Infant
6
Young Adult
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Date issued
2
2020 - 2021
16
2010 - 2019
1
2008 - 2009