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Results 1-10 of 12 (Search time: 0.004 seconds).
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Issue Date
Title
Author(s)
2019
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
Corbett, M.A.
;
Kroes, T.
;
Veneziano, L.
;
Bennett, M.F.
;
Florian, R.
;
Schneider, A.L.
;
Coppola, A.
;
Licchetta, L.
;
Franceschetti, S.
;
Suppa, A.
;
Wenger, A.
;
Mei, D.
;
Pendziwiat, M.
;
Kaya, S.
;
Delledonne, M.
;
Straussberg, R.
;
Xumerle, L.
;
Regan, B.
;
Crompton, D.
;
van Rootselaar, A.-F.
;
et al.
2019
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
Guo, H.
;
Li, Y.
;
Shen, L.
;
Wang, T.
;
Jia, X.
;
Liu, L.
;
Xu, T.
;
Ou, M.
;
Hoekzema, K.
;
Wu, H.
;
Gillentine, M.A.
;
Liu, C.
;
Ni, H.
;
Peng, P.
;
Zhao, R.
;
Zhang, Y.
;
Phornphutkul, C.
;
Stegmann, A.P.A.
;
Prada, C.E.
;
Hopkin, R.J.
;
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.
2021
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants
Whalen, S.
;
Shaw, M.
;
Mignot, C.
;
Héron, D.
;
Bastaraud, S.C.
;
Walti, C.C.
;
Liebelt, J.
;
Elmslie, F.
;
Yap, P.
;
Hurst, J.
;
Forsythe, E.
;
Kirmse, B.
;
Ozmore, J.
;
Spinelli, A.M.
;
Calabrese, O.
;
de Villemeur, T.B.
;
Tabet, A.C.
;
Levy, J.
;
Guet, A.
;
Kossorotoff, M.
;
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
Genome sequencing in persistently unsolved white matter disorders
Helman, G.
;
Lajoie, B.R.
;
Crawford, J.
;
Takanohashi, A.
;
Walkiewicz, M.
;
Dolzhenko, E.
;
Gross, A.M.
;
Gainullin, V.G.
;
Bent, S.J.
;
Jenkinson, E.M.
;
Ferdinandusse, S.
;
Waterham, H.R.
;
Dorboz, I.
;
Bertini, E.
;
Miyake, N.
;
Wolf, N.I.
;
Abbink, T.E.M.
;
Kirwin, S.M.
;
Tan, C.M.
;
Hobson, G.M.
;
et al.
2019
Characterization of the human myelin oligodendrocyte glycoprotein antibody response in demyelination
Tea, F.
;
Lopez, J.A.
;
Ramanathan, S.
;
Merheb, V.
;
Lee, F.X.Z.
;
Zou, A.
;
Pilli, D.
;
Patrick, E.
;
van der Walt, A.
;
Monif, M.
;
Tantsis, E.M.
;
Yiu, E.M.
;
Vucic, S.
;
Henderson, A.P.D.
;
Fok, A.
;
Fraser, C.L.
;
Lechner-Scott, J.
;
Reddel, S.W.
;
Broadley, S.
;
Barnett, M.H.
;
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.
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.
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.
Discover
Author
2
Li, Y.
2
Schneider, A.L.
1
Abascal, F.
1
Abbas, K.M.
1
Abbasi-Kangevari, M.
1
Abbasifard, M.
1
Abbastabar, H.
1
Abbink, T.E.M.
1
Abd-Allah, F.
1
Abdelalim, A.
.
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Subject
12
Humans
12
Male
6
Adult
6
Infant
6
Young Adult
5
Mutation
5
Pedigree
4
Middle Aged
3
Risk Factors
2
Aged
.
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