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Results 1-10 of 10 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
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
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.
2013
Identification Of KLHL41 mutations implicates BTB-Kelch-Mediated Ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy
Gupta, V.
;
Ravenscroft, G.
;
Shaheen, R.
;
Todd, E.
;
Swanson, L.
;
Shiina, M.
;
Ogata, K.
;
Hsu, C.
;
Clarke, N.
;
Darras, B.
;
Farrar, M.
;
Hashem, A.
;
Manton, N.
;
Muntoni, F.
;
North, K.
;
Sandaradura, S.
;
Nishino, I.
;
Hayashi, Y.
;
Sewry, C.
;
Thompson, E.
;
et al.
2019
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency
Volpi, S.
;
Cicalese, M.P.
;
Tuijnenburg, P.
;
Tool, A.T.J.
;
Cuadrado, E.
;
Abu-Halaweh, M.
;
Ahanchian, H.
;
Alzyoud, R.
;
Akdemir, Z.C.
;
Barzaghi, F.
;
Blank, A.
;
Boisson, B.
;
Bottino, C.
;
Brigida, I.
;
Caorsi, R.
;
Casanova, J.L.
;
Chiesa, S.
;
Chinn, I.K.
;
Dückers, G.
;
Enders, A.
;
et al.
2016
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
van Bon, B.W.M.
;
Coe, B.P.
;
Bernier, R.
;
Green, C.
;
Gerdts, J.
;
Witherspoon, K.
;
Kleefstra, T.
;
Willemsen, M.H.
;
Kumar, R.
;
Bosco, P.
;
Fichera, M.
;
Li, D.
;
Amaral, D.
;
Cristofoli, F.
;
Peeters, H.
;
Haan, E.
;
Romano, C.
;
Mefford, H.C.
;
Scheffer, I.
;
Gecz, J.
;
et al.
2013
Mutations in DEPDC5 cause familial focal epilepsy with variable foci
Dibbens, L.
;
de Vries, B.
;
Donatello, S.
;
Heron, S.
;
Hodgson, B.
;
Chintawar, S.
;
Crompton, D.
;
Hughes, J.
;
Bellows, S.
;
Klein, K.
;
Callenbach, P.
;
Corbett, M.
;
Gardner, A.
;
Kivity, S.
;
Iona, X.
;
Regan, B.
;
Weller, C.
;
Crimmins, D.
;
O'Brien, T.
;
Guerrero-Lopez, R.
;
et al.
2007
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor
Ali, A.
;
Christie, P.
;
Grigorieva, I.
;
Harding, B.
;
Van Esch, H.
;
Ahmed, S.
;
Bitner-Glindzicz, M.
;
Blind, E.
;
Bloch, C.
;
Christin, P.
;
Clayton, P.
;
Gecz, J.
;
Gilbert-Dussardier, B.
;
Guillen-Navarro, E.
;
Hackett, A.
;
Halac, I.
;
Hendy, G.
;
Lalloo, F.
;
Mache, C.
;
Mughal, Z.
;
et al.
2016
Integration of genetic and clinical risk factors improves prognostication in relapsed childhood B-cell precursor acute lymphoblastic leukemia
Irving, J.
;
Enshaei, A.
;
Parker, C.
;
Sutton, R.
;
Kuiper, R.
;
Erhorn, A.
;
Minto, L.
;
Venn, N.
;
Law, T.
;
Yu, J.
;
Schwab, C.
;
Davies, R.
;
Matheson, E.
;
Davies, A.
;
Sonneveld, E.
;
Den Boer, M.
;
Love, S.
;
Harrison, C.
;
Hoogerbrugge, P.
;
Revesz, T.
;
et al.
2018
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder
Frints, S.G.M.
;
Ozanturk, A.
;
Rodríguez Criado, G.
;
Grasshoff, U.
;
de Hoon, B.
;
Field, M.
;
Manouvrier-Hanu, S.
;
E Hickey, S.
;
Kammoun, M.
;
Gripp, K.W.
;
Bauer, C.
;
Schroeder, C.
;
Toutain, A.
;
Mihalic Mosher, T.
;
Kelly, B.J.
;
White, P.
;
Dufke, A.
;
Rentmeester, E.
;
Moon, S.
;
Koboldt, D.C.
;
et al.
2017
Adults with Philadelphia chromosome-like acute lymphoblastic leukemia frequently have IGH-CRLF2 and JAK2 mutations, persistence of minimal residual disease and poor prognosis
Herold, T.
;
Schneider, S.
;
Metzeler, K.
;
Neumann, M.
;
Hartmann, L.
;
Roberts, K.
;
Konstandin, N.
;
Greif, P.
;
Braeundl, K.
;
Ksienzyk, B.
;
Huk, N.
;
Schneider, I.
;
Zellmeier, E.
;
Jurinovic, V.
;
Mansmann, U.
;
Hiddemann, W.
;
Mullighan, C.
;
Bohlander, S.
;
Spiekermann, K.
;
Hoelzer, D.
;
et al.
Discover
Author
2
Gecz, J.
1
Abu-Halaweh, M.
1
Ahanchian, H.
1
Ahmed, S.
1
Akdemir, Z.C.
1
Alexander, T.B.
1
Ali, A.
1
Alzyoud, R.
1
Amaral, D.
1
Angenendt, L.
.
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Subject
10
Humans
10
Male
8
Child
8
Child, Preschool
7
Adult
6
Infant
5
Middle Aged
5
Young Adult
4
Infant, Newborn
4
Prognosis
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Date issued
9
2010 - 2019
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2007 - 2009