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Results 131-134 of 134 (Search time: 0.006 seconds).
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Issue Date
Title
Author(s)
2006
ARX: a gene for all seasons
Gecz, J.
;
Cloosterman, D.
;
Partington, M.
2011
"Blinders, phenotype, and fashionable genetic analysis": setting the record straight for epilepsy!
Mulley, J.C.
;
Heron, S.E.
;
Wallace, R.H.
;
Gecz, J.
;
Dibbens, L.M.
2023
Bi-allelic variants in the neuronal cell adhesion molecule NRCAM lead to a novel neurodevelopmental disorder characterized by developmental delay, hypotonia, peripheral neuropathy or spasticity
Kurolap, A.
;
Kreuder, F.
;
Gonzaga-Jauregui, C.
;
Duvdevani, M.P.
;
Harel, T.
;
Tammer, L.
;
Xin, B.
;
Bakhtiari, S.
;
Rice, J.
;
van Eyk, C.
;
Gecz, J.
;
Mah, J.K.
;
Atkinson, D.
;
Cope, H.
;
Sullivan, J.A.
;
Douek, A.M.
;
Colquhoun, D.
;
Henry, J.
;
Wlodkowic, D.
;
Parman, Y.
;
et al.
;
55th European Society of Human Genetics Conference (ESHG) (11 Jun 2022 - 14 Jun 2022 : Vienna, Austria & virtual online)
2010
A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32
Hattersley, K.
;
Laurie, K.
;
Liebelt, J.
;
Gecz, J.
;
Durkin, S.
;
Craig, J.
;
Burden, K.
Discover
Author
17
Shoubridge, C.
15
Ropers, H.
15
Turner, G.
14
Chelly, J.
14
et al.
14
Kalscheuer, V.
13
Fryns, J.
13
Haan, E.
13
Schwartz, C.
13
Shaw, M.
.
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Subject
87
Humans
52
Male
47
Mutation
42
Female
28
Intellectual Disability
28
Pedigree
26
Animals
26
Molecular Sequence Data
22
Chromosomes, Human, X
21
Transcription Factors
.
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Date issued
2
2020 - 2023
60
2010 - 2019
67
2000 - 2009
5
1997 - 1999