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Results 1-10 of 17 (Search time: 0.002 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.
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.
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.
2011
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma
Yokoyama, S.
;
Woods, S.
;
Boyle, G.
;
Aoude, L.
;
MacGregor, S.
;
Zismann, V.
;
Gartside, M.
;
Cust, A.
;
Haq, R.
;
Harland, M.
;
Taylor, J.
;
Duffy, D.
;
Holohan, K.
;
Dutton-Regester, K.
;
Palmer, J.
;
Bonazzi, V.
;
Stark, M.
;
Symmons, J.
;
Law, M.
;
Schmidt, C.
;
et al.
Discover
Author
2
Christie, M.
2
Day, F.
2
Desai, J.
2
Hawkins, N.
2
Jones, I.
2
Jorissen, R.
2
Li, S.
2
Lipton, L.
2
McLaughlin, S.
2
Moore, J.
.
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