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Results 1-10 of 12 (Search time: 0.005 seconds).
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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.
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.
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.
2015
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis
Ramos-Brossier, M.
;
Montani, C.
;
Lebrun, N.
;
Gritti, L.
;
Martin, C.
;
Seminatore-Nole, C.
;
Toussaint, A.
;
Moreno, S.
;
Poirier, K.
;
Dorseuil, O.
;
Chelly, J.
;
Hackett, A.
;
Gecz, J.
;
Bieth, E.
;
Faudet, A.
;
Heron, D.
;
Kooy, R.
;
Loeys, B.
;
Humeau, Y.
;
Sala, C.
;
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.
2008
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
Gilfillan, G.
;
Selmer, K.
;
Roxrud, I.
;
Smith, R.
;
Kyllerman, M.
;
Eiklid, K.
;
Kroken, M.
;
Mattingsdal, M.
;
Egeland, T.
;
Stenmark, H.
;
Sjoholm, H.
;
Server, A.
;
Samuelsson, L.
;
Christianson, A.
;
Tarpey, P.
;
Whibley, A.
;
Stratton, M.
;
Futreal, P.
;
Teague, J.
;
Edkins, S.
;
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.
2007
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation
Upadyaya, M.
;
Huson, S.
;
Davies, M.
;
Thomas, N.
;
Chuzhanova, N.
;
Giovannini, S.
;
Evans, D.
;
Howard, E.
;
Kerr, B.
;
Kerr, B.
;
Consoli, C.
;
Side, L.
;
Adams, D.
;
Pierpont, M.
;
Hatchen, R.
;
Barnicoat, A.
;
Li, H.
;
Wallace, P.
;
Van Biervliet, J.
;
Stevenson, D.
;
et al.
Discover
Author
2
Clayton, P.
2
Crompton, D.
2
Gecz, J.
2
Hackett, A.
2
Regan, B.
1
Abbink, T.E.M.
1
Adams, D.
1
Ades, L.
1
Ahmed, S.
1
Ali, A.
.
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Subject
11
Female
10
Child, Preschool
9
Adolescent
9
Adult
5
Mutation
4
Middle Aged
4
Phenotype
4
Syndrome
3
Animals
3
DNA Mutational Analysis
.
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Date issued
2
2020 - 2021
6
2010 - 2019
3
2000 - 2009
1
1997 - 1999