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Results 21-30 of 30 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2010
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
Giannandrea, M.
;
Bianchi, V.
;
Mignogna, M.
;
Sirri, A.
;
Carrabino, S.
;
D'Elia, E.
;
Vecellio, M.
;
Russo, S.
;
Cogliati, F.
;
Larizza, L.
;
Ropers, H.
;
Tzschach, A.
;
Kalscheuer, V.
;
Oehl-Jaschkowitz, B.
;
Skinner, C.
;
Schwartz, C.
;
Gecz, J.
;
Van Esch, H.
;
Raynaud, M.
;
Chelly, J.
;
et al.
2010
Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination
Pearlman, A.
;
Loke, J.
;
Le Caignec, C.
;
White, S.
;
Chin, L.
;
Friedman, A.
;
Warr, N.
;
Willan, J.
;
Brauer, D.
;
Farmer, C.
;
Brooks, E.
;
Oddoux, C.
;
Riley, B.
;
Shajahan, S.
;
Camerino, G.
;
Homfray, T.
;
Crosby, A.
;
Couper, J.
;
David, A.
;
Greenfield, A.
;
et al.
2010
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
Tischfield, M.
;
Baris, H.
;
Wu, C.
;
Rudolph, G.
;
van Maldergem, L.
;
He, W.
;
Chan, W.
;
Andrews, C.
;
Demer, J.
;
Robertson, R.
;
Mackey, D.
;
Ruddle, J.
;
Bird, T.
;
Gottlob, I.
;
Pieh, C.
;
Traboulsi, E.
;
Pomeroy, S.
;
Hunter, D.
;
Soul, J.
;
Newlin, A.
;
et al.
2011
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1
Burdon, K.
;
MacGregor, S.
;
Hewitt, A.
;
Sharma, S.
;
Chidlow, G.
;
Mills, R.
;
Danoy, P.
;
Casson, R.
;
Viswanathan, A.
;
Liu, J.
;
Landers, J.
;
Henders, A.
;
Wood, J.
;
Souzeau, E.
;
Crawford, A.
;
Leo, P.
;
Wang, J.
;
Rochtchina, E.
;
Nyholt, D.
;
Martin, N.
;
et al.
2011
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia
Hahn, C.
;
Chong, C.
;
Carmichael, C.
;
Wilkins, E.
;
Brautigan, P.
;
Li, X.
;
Babic, M.
;
Lin, M.
;
Carmagnac, A.
;
Lee, Y.
;
Kok, C.
;
Gagliardi, L.
;
Friend, K.
;
Ekert, P.
;
Butcher, C.
;
Brown, A.
;
Lewis, I.
;
To, L.
;
Timms, A.
;
Storek, J.
;
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.
2012
Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature
Kazenwadel, J.
;
Secker, G.
;
Liu, Y.
;
Rosenfeld, J.
;
Wildin, R.
;
Cuellar-Rodriguez, J.
;
Hsu, A.
;
Dyack, S.
;
Fernandez, C.
;
Chong, C.
;
Babic, M.
;
Bardy, P.
;
Shimamura, A.
;
Zhang, M.
;
Walsh, T.
;
Holland, S.
;
Hickstein, D.
;
Horwitz, M.
;
Hahn, C.
;
Scott, H.
;
et al.
2011
Identification of SOX3 as an XX male sex reversal gene in mice and humans
Sutton, E.
;
Hughes, J.
;
White, S.
;
Sekido, R.
;
Tan, J.
;
Arboleda, V.
;
Rogers, N.
;
Knower, K.
;
Rowley, L.
;
Eyre, H.
;
Rizzoti, K.
;
McAninch, D.
;
Golcalves, J.
;
Slee, J.
;
Turbitt, E.
;
Bruno, D.
;
Bengtsson, H.
;
Harley, V.
;
Vilain, E.
;
Sinclair, A.
;
et al.
2018
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder
Frints, S.G.M.
;
Ozanturk, A.
;
Rodríguez Criado, G.
;
Grasshoff, U.
;
de Hoon, B.
;
Field, M.
;
Manouvrier-Hanu, S.
;
E Hickey, S.
;
Kammoun, M.
;
Gripp, K.W.
;
Bauer, C.
;
Schroeder, C.
;
Toutain, A.
;
Mihalic Mosher, T.
;
Kelly, B.J.
;
White, P.
;
Dufke, A.
;
Rentmeester, E.
;
Moon, S.
;
Koboldt, D.C.
;
et al.
2017
A mutation in the viral sensor 2’-5’-oligoadenylate synthetase 2 causes failure of lactation
Oakes, S.R.
;
Gallego-Ortega, D.
;
Stanford, P.M.
;
Junankar, S.
;
Au, W.W.Y.
;
Kikhtyak, Z.
;
von Korff, A.
;
Sergio, C.M.
;
Law, A.M.K.
;
Castillo, L.E.
;
Allerdice, S.L.
;
Young, A.I.J.
;
Piggin, C.
;
Whittle, B.
;
Bertram, E.
;
Naylor, M.J.
;
Roden, D.L.
;
Donovan, J.
;
Korennykh, A.
;
Goodnow, C.C.
;
et al.
;
Wells, C.A.
Discover
Author
3
Hughes, J.
2
Babic, M.
2
Chong, C.
2
Gecz, J.
2
Hahn, C.
2
Lee, Y.
2
Leo, P.
2
White, S.
1
Adelson, D.
1
Agius, L.
.
next >
Subject
26
Humans
23
Male
21
Mice
10
Child
10
Mutation
8
Child, Preschool
7
Adult
7
Disease Models, Animal
7
Pedigree
6
Adolescent
.
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Date issued
5
2019
3
2018
4
2017
1
2016
2
2015
1
2014
5
2013
3
2012
3
2011
3
2010
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