Skip navigation
Home
Browse
Communities
& Collections
Browse Items by:
Issue Date
Author
Title
Advisor
Help
Sign on to:
My DSpace
Receive email
updates
Edit Profile
Adelaide Research & Scholarship
Adelaide Research & Scholarship
Search
Search:
All collections
Schools and Disciplines
School of Paediatrics & Reproductive Health
Obstetrics and Gynaecology
Paediatrics
for
Current filters:
Title
Author
Subject
Date Issued
Advisor
School
Department
Organisation
Equals
Contains
ID
Not Equals
Not Contains
Not ID
Title
Author
Subject
Date Issued
Advisor
School
Department
Organisation
Equals
Contains
ID
Not Equals
Not Contains
Not ID
Start a new search
Add filters:
Use filters to refine the search results.
Title
Author
Subject
Date Issued
Advisor
School
Department
Organisation
Equals
Contains
ID
Not Equals
Not Contains
Not ID
Results 1-10 of 14 (Search time: 0.004 seconds).
previous
1
2
next
Item hits:
Preview
Issue Date
Title
Author(s)
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.
2015
Targeted next-generation sequencing analysis of 1,000 individuals with intellectual disability
Grozeva, D.
;
Carss, K.
;
Spasic-Boskovic, O.
;
Tejada, M.
;
Gecz, J.
;
Shaw, M.
;
Corbett, M.
;
Haan, E.
;
Thompson, E.
;
Friend, K.
;
Hussain, Z.
;
Hackett, A.
;
Field, M.
;
Renieri, A.
;
Stevenson, R.
;
Schwartz, C.
;
Floyd, J.
;
Bentham, J.
;
Cosgrove, C.
;
Keavney, B.
;
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.
2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
Heron, S.
;
Grinton, B.
;
Kivity, S.
;
Afawi, Z.
;
Zuberi, S.
;
Hughes, J.
;
Pridmore, C.
;
Hodgson, B.
;
Iona, X.
;
Sadleir, L.
;
Pelekanos, J.
;
Herlenius, E.
;
Goldberg-Stern, H.
;
Bassan, H.
;
Haan, E.
;
Korczyn, A.
;
Gardner, A.
;
Corbett, M.
;
Gecz, J.
;
Thomas, P.
;
et al.
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.
2007
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans
Wu, Y.
;
Arai, A.
;
Rumbaugh, G.
;
Srivastava, A.
;
Turner, G.
;
Hayashi, T.
;
Suzuki, E.
;
Jiang, Y.
;
Zhang, L.
;
Rodriguez, J.
;
Boyle, J.
;
Tarpey, P.
;
Raymond, F.
;
Nevelsteen, J.
;
Froyen, G.
;
Stratton, M.
;
Futreal, P.
;
Gecz, J.
;
Stevenson, R.
;
Schwartz, C.
;
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.
2008
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression
Frints, S.
;
Lenzer, S.
;
Bauters, M.
;
Jensen, L.
;
Van Esch, H.
;
des Portes, V.
;
Moog, U.
;
Macville, M.
;
Roozendaal, K.
;
Schrander-Stumpel, C.
;
Tzschach, A.
;
Marynen, P.
;
Fryns, J.
;
Hamel, B.
;
van Bokhoven, H.
;
Chelly, J.
;
Beldjord, C.
;
Turner, G.
;
Gecz, J.
;
Moraine, C.
;
et al.
2010
PHF6 mutations in T-cell acute lymphoblastic leukemia
Van Vlierberghe, P.
;
Palomero, T.
;
Khiabanian, H.
;
Van der Meulen, J.
;
Castillo, M.
;
Van Roy, N.
;
De Moerloose, B.
;
Philippe, J.
;
Gonzalez-Garcia, M.
;
Toribio, M.
;
Taghon, T.
;
Zuurbier, L.
;
Cauwelier, B.
;
Harrison, C.
;
Schwab, C.
;
Pisecker, M.
;
Strehl, S.
;
Langerak, A.
;
Gecz, J.
;
Sonneveld, E.
;
et al.
2002
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
Bienvenu, T.
;
Poirier, K.
;
Friocourt, G.
;
Bahi, N.
;
Beaumont, D.
;
Fauchereau, F.
;
Jeema, L.
;
Zemni, R.
;
Vinet, M.
;
Francis, F.
;
Couvert, P.
;
Gomot, M.
;
Moraine, C.
;
van Bokhoven, H.
;
Kalscheuer, V.
;
Frints, S.
;
Gecz, J.
;
Ohzaki, K.
;
Chaabouni, H.
;
Fryns, J.
;
et al.
Discover
Author
4
Chelly, J.
4
Hackett, A.
4
Kalscheuer, V.
4
Tzschach, A.
4
Van Esch, H.
3
Haan, E.
3
Jensen, L.
3
Schwartz, C.
2
Corbett, M.
2
Frints, S.
.
next >
Subject
9
Humans
9
Mutation
8
Male
7
Female
7
Pedigree
6
Molecular Sequence Data
5
Adult
5
Child
5
Child, Preschool
4
Intellectual Disability
.
next >
Date issued
1
2020 - 2023
7
2010 - 2019
6
2002 - 2009