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Issue Date
Title
Author(s)
2013
RAB40AL loss-of-function mutation does not cause X-linked intellectual disability
Kalscheuer, V.
;
Iqbal, Z.
;
Hu, H.
;
Haas, S.
;
Shaw, M.
;
Lebrun, N.
;
Seemanova, E.
;
Voesenek, K.
;
Hobson, L.
;
Ropers, H.H.
;
Townshend, S.
;
Raynaud, M.
;
van Bokhoven, H.
;
Riazuddin, S.
;
Chelly, J.
;
Gecz, J.
2014
UPF3B gene and nonsense-mediated mRNA decay in autism spectrum disorders
Laumonnier, F.
;
Nguyen, L.
;
Jolly, L.
;
Raynaud, M.
;
Gecz, J.
;
Patel, V.
;
Preedy, P.
;
Martin, C.
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.
2011
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1
Jensen, L.
;
Wei, C.
;
Moser, B.
;
Lipkowitz, B.
;
Schroeder, C.
;
Musante, L.
;
Tzschach, A.
;
Kalscheuer, V.
;
Meloni, I.
;
Raynaud, M.
;
Van Esch, H.
;
Chelly, J.
;
de Brouwer, A.
;
Hackett, A.
;
van der Haar, S.
;
Henn, W.
;
Gecz, J.
;
Riess, O.
;
Bonin, M.
;
Reinhardt, R.
;
et al.
2010
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism
Laumonnier, F.
;
Shoubridge, C.
;
Antar, C.
;
Nguyen, L.
;
Van Esch, H.
;
Kleefstra, T.
;
Briault, S.
;
Fryns, J.
;
Hamel, B.
;
Chelly, J.
;
Ropers, H.
;
Ronce, N.
;
Blesson, S.
;
Moraine, C.
;
Gecz, J.
;
Raynaud, M.
2010
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C
Jensen, L.
;
Bartenschlager, H.
;
Rujirabanjerd, S.
;
Tzschach, A.
;
Numann, A.
;
Janecke, A.
;
Sporle, R.
;
Stricker, S.
;
Raynaud, M.
;
Nelson, J.
;
Hackett, A.
;
Fryns, J.
;
Chelly, J.
;
de Brouwer, A.
;
Hamel, B.
;
Gecz, J.
;
Ropers, H.
;
Kuss, A.
2014
Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth
Homan, C.
;
Kumar, R.
;
Nguyen, L.
;
Haan, E.
;
Raymond, F.
;
Abidi, F.
;
Raynaud, M.
;
Schwartz, C.
;
Wood, S.
;
Gecz, J.
;
Jolly, L.
Discover
Author
5
Chelly, J.
3
Kalscheuer, V.
3
Nguyen, L.
3
Ropers, H.
3
Tzschach, A.
3
Van Esch, H.
2
de Brouwer, A.
2
et al.
2
Fryns, J.
2
Hackett, A.
.
next >
Subject
2
11 Medical and Health Sciences
2
1103 Clinical Sciences
2
110311 Medical Genetics (excl. Ca...
2
92 Health
2
9201 Clinical Health (Organs, Dis...
2
Animals
2
Female
2
Humans
2
Male
2
Mice
.
next >
Date issued
2
2014
1
2013
1
2011
3
2010