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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.
2014
Placental restriction of fetal growth reduces cutaneous responses to antigen after sensitization in sheep
Wooldridge, A.
;
Bischof, R.
;
Meeusen, E.
;
Liu, H.
;
Heinemann, G.
;
Hunter, D.
;
Giles, L.
;
Kind, K.
;
Owens, J.
;
Clifton, V.
;
Gatford, K.
2014
Nonsense-mediated mRNA decay: Inter-individual variability and human disease
Nguyen, L.
;
Wilkinson, M.
;
Gecz, J.
2014
Phenotype-genotype complexities: opening DOORS
Berkovic, S.
;
Gecz, J.
2012
New mutations and sporadic intellectual disability
Gecz, J.
;
Haan, E.
2012
A case series of five Sri Lankan patients with ovotesticular disorder of sex development
Wettasinghe, K.
;
Sirisena, N.
;
Andraweera, P.
;
Jayasekara, R.
;
Dissanayake, V.
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Author
5
Gecz, J.
2
Nguyen, L.
2
Raynaud, M.
1
Andraweera, P.
1
Berkovic, S.
1
Bischof, R.
1
Chelly, J.
1
Clifton, V.
1
Dissanayake, V.
1
Gatford, K.
.
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Subject
7
92 Health
6
11 Medical and Health Sciences
4
1103 Clinical Sciences
4
110311 Medical Genetics (excl. Ca...
3
06 Biological Sciences
3
0604 Genetics
3
920199 Clinical Health (Organs, D...
3
Female
3
Male
2
060403 Developmental Genetics (in...
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Date issued
4
2014
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2013
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2012