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Issue Date
Title
Author(s)
1997
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
Muenke, M.
;
Gripp, K.
;
McDonald-McGinn, D.
;
Gaudenz, K.
;
Whitaker, L.
;
Bartlett, S.
;
Markowitz, R.
;
Robin, N.
;
Nwokoro, N.
;
Mulvihill, J.
;
Losken, H.
;
Mulliken, J.
;
Guttmacher, A.
;
Wilroy, R.
;
Clarke, L.
;
Hollway, G.
;
Ades, L.
;
Haan, E.
;
Mulley, J.
;
Cohen, M.
;
et al.
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
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.
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.
2014
Characterization of stem-like cells in mucoepidermoid tracheal paediatric tumor
Lim, M.
;
Ooi, B.
;
Jungebluth, P.
;
Sjöqvist, S.
;
Hultman, I.
;
Lemon, G.
;
Gustafsson, Y.
;
Asmundsson, J.
;
Baiguera, S.
;
Douagi, I.
;
Gilevich, I.
;
Popova, A.
;
Haag, J.
;
Rodríguez, A.
;
Lim, J.
;
Liedén, A.
;
Nordenskjöld, M.
;
Alici, E.
;
Baker, D.
;
Unger, C.
;
et al.
;
Burns, J.
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.
2019
Child Health CheckPoint: cohort summary and methodology of a physical health and biospecimen module for the Longitudinal Study of Australian Children
Clifford, S.A.
;
Davies, S.
;
Wake, M.
;
Azzopardi, P.S.
;
Baur, L.A.
;
Burgner, D.P.
;
Carlin, J.B.
;
Cheung, M.
;
Dwyer, T.
;
Edwards, B.
;
Ellul, S.
;
Gillespie, A.N.
;
Gold, L.
;
Grobler, A.C.
;
Kerr, J.A.
;
Lycett, K.
;
Lange, K.
;
Mensah, F.K.
;
Olds, T.S.
;
Ranganathan, S.
;
et al.
2019
GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI
Alves, A.C.
;
De Silva, N.M.G.
;
Karhunen, V.
;
Sovio, U.
;
Das, S.
;
Rob Taal, H.
;
Warrington, N.M.
;
Lewin, A.M.
;
Kaakinen, M.
;
Cousminer, D.L.
;
Thiering, E.
;
Timpson, N.J.
;
Bond, T.A.
;
Lowry, E.
;
Brown, C.D.
;
Estivill, X.
;
Lindi, V.
;
Bradfield, J.P.
;
Geller, F.
;
Speed, D.
;
et al.
2018
Plasmacytoid dendritic cells protect from viral bronchiolitis and asthma through semaphorin 4a-mediated T reg expansion
Lynch, J.
;
Werder, R.
;
Loh, Z.
;
Sikder, M.
;
Curren, B.
;
Zhang, V.
;
Rogers, M.
;
Lane, K.
;
Simpson, J.
;
Mazzone, S.
;
Spann, K.
;
Hayball, J.
;
Diener, K.
;
Everard, M.
;
Blyth, C.
;
Forstner, C.
;
Dennis, P.
;
Murtaza, N.
;
Morrison, M.
;
Cuív, P.
;
et al.
Discover
Author
6
Gecz, J.
4
Vos, T.
3
Anderson, H.
3
Andrews, K.
3
Evans, D.
3
Ezzati, M.
3
Flaxman, A.
3
Hackett, A.
3
Kaakinen, M.
3
Schwab, C.
.
next >
Subject
16
Middle Aged
13
Infant, Newborn
13
Pedigree
10
Animals
9
Intellectual Disability
8
Mice
8
Phenotype
8
Syndrome
7
Aged
7
Genetic Association Studies
.
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2020 - 2021
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2010 - 2019
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2000 - 2009
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1997 - 1999