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Results 1-10 of 18 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2020
Coronavirus disease 2019 in patients with inborn errors of immunity: an international study
Meyts, I.
;
Bucciol, G.
;
Quinti, I.
;
Neven, B.
;
Fischer, A.
;
Seoane, E.
;
Lopez-Granados, E.
;
Gianelli, C.
;
Robles-Marhuenda, A.
;
Jeandel, P.Y.
;
Paillard, C.
;
Sankaran, V.G.
;
Demirdag, Y.Y.
;
Lougaris, V.
;
Aiuti, A.
;
Plebani, A.
;
Milito, C.
;
Dalm, V.A.
;
Guevara-Hoyer, K.
;
Sánchez-Ramón, S.
;
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.
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.
2020
Global age-sex-specific fertility, mortality, healthy life expectancy (HALE), and population estimates in 204 countries and territories, 1950–2019: a comprehensive demographic analysis for the Global Burden of Disease Study 2019
Wang, H.
;
Abbas, K.M.
;
Abbasifard, M.
;
Abbasi-Kangevari, M.
;
Abbastabar, H.
;
Abd-Allah, F.
;
Abdelalim, A.
;
Abolhassani, H.
;
Abreu, L.G.
;
Abrigo, M.R.M.
;
Abushouk, A.I.
;
Adabi, M.
;
Adair, T.
;
Adebayo, O.M.
;
Adedeji, I.A.
;
Adekanmbi, V.
;
Adeoye, A.M.
;
Adetokunboh, O.O.
;
Advani, S.M.
;
Afshin, A.
;
et al.
2011
Association between common variation at the FTO locus and changes in body mass index from infancy to late childhood: the complex nature of genetic association through growth and development
Sovio, U.
;
Mook-Kanamori, D.
;
Warrington, N.
;
Lawrence, R.
;
Briollais, L.
;
Palmer, C.
;
Cecil, J.
;
Sandling, J.
;
Syvanen, A.
;
Kaakinen, M.
;
Beilin, L.
;
Millwood, I.
;
Bennett, A.
;
Laitneen, J.
;
Pouta, A.
;
Molitor, J.
;
Smith, G.
;
Ben-Shlomo, Y.
;
Jaddoe, V.
;
Palmer, L.
;
et al.
;
Gibson, G.
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.
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.
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.
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.
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.
Discover
Author
4
Vos, T.
3
Anderson, H.
3
Andrews, K.
3
Flaxman, A.
3
Shibuya, K.
2
Abdalla, S.
2
Aboyans, V.
2
Abraham, J.
2
Ackerman, I.
2
Aggarwal, R.
.
next >
Subject
18
Child, Preschool
18
Female
18
Humans
11
Adult
10
Infant, Newborn
10
Young Adult
8
Middle Aged
8
Mutation
7
Aged
5
Aged, 80 and over
.
next >
Date issued
17
2010 - 2020
1
2007 - 2009