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Results 1-5 of 5 (Search time: 0.004 seconds).
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Issue Date
Title
Author(s)
2017
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
Geisheker, M.
;
Heymann, G.
;
Wang, T.
;
Coe, B.
;
Turner, T.
;
Stessman, H.
;
Hoekzema, K.
;
Kvarnung, M.
;
Shaw, M.
;
Friend, K.
;
Liebelt, J.
;
Barnett, C.
;
Thompson, E.
;
Haan, E.
;
Guo, H.
;
Anderlid, B.
;
Nordgren, A.
;
Lindstrand, A.
;
Vandeweyer, G.
;
Alberti, A.
;
et al.
2011
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I
He, H.
;
Liyanarachchi, S.
;
Akagi, K.
;
Nagy, R.
;
Li, J.
;
Dietrich, R.
;
Li, W.
;
Sebastian, N.
;
Wen, B.
;
Xin, B.
;
Singh, J.
;
Yan, P.
;
Alder, H.
;
Haan, E.
;
Wieczorek, D.
;
Albrecht, B.
;
Puffenberger, E.
;
Wang, H.
;
Westman, J.
;
Padgett, R.
;
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.
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.
2006
Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource
Mann, G.
;
Thorne, H.
;
Balleine, R.
;
Butow, P.
;
Clarke, C.
;
Edkins, E.
;
Evans, G.
;
Fereday, S.
;
Haan, E.
;
Gattas, M.
;
Giles, G.
;
Goldblatt, J.
;
Hopper, J.
;
Kirk, J.
;
Leary, J.
;
Lindeman, G.
;
Niedermayr, E.
;
Phillips, K.
;
Picken, S.
;
Pupo, G.
;
et al.
Discover
Author
1
Ades, L.
1
Akagi, K.
1
Alberti, A.
1
Albrecht, B.
1
Alder, H.
1
Amaral, D.
1
Anderlid, B.
1
Balleine, R.
1
Barnett, C.
1
Bartlett, S.
.
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Subject
5
Humans
4
Male
3
Adult
3
Pedigree
2
Autistic Disorder
2
Child
2
Cohort Studies
2
Fetal Growth Retardation
2
Microcephaly
2
Middle Aged
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Date issued
3
2010 - 2017
1
2000 - 2009
1
1997 - 1999