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Results 1-10 of 12 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2019
GJB2 and GJB6 mutations in hereditary recessive non-syndromic hearing impairment in Cameroon
Tingang Wonkam, E.
;
Chimusa, E.
;
Noubiap, J.J.
;
Adadey, S.M.
;
F Fokouo, J.V.
;
Wonkam, A.
1999
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda
Gedeon, A.
;
Colley, A.
;
Jamieson, R.
;
Thompson, E.
;
Rogers, J.
;
Sillence, D.
;
Tiller, G.
;
Mulley, J.
;
Gecz, J.
2017
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing
Jansen, I.E.
;
Ye, H.
;
Heetveld, S.
;
Lechler, M.C.
;
Michels, H.
;
Seinstra, R.I.
;
Lubbe, S.J.
;
Drouet, V.
;
Lesage, S.
;
Majounie, E.
;
Gibbs, J.R.
;
Nalls, M.A.
;
Ryten, M.
;
Botia, J.A.
;
Vandrovcova, J.
;
Simon-Sanchez, J.
;
Castillo-Lizardo, M.
;
Rizzu, P.
;
Blauwendraat, C.
;
Chouhan, A.K.
;
et al.
2020
Cohort profile: the Australian genetics of depression study
Byrne, E.M.
;
Kirk, K.M.
;
Medland, S.E.
;
McGrath, J.J.
;
Colodro-Conde, L.
;
Parker, R.
;
Cross, S.
;
Sullivan, L.
;
Statham, D.J.
;
Levinson, D.F.
;
Licinio, J.
;
Wray, N.R.
;
Hickie, I.B.
;
Martin, N.G.
2020
Can we blame fathers who are obese peri-conception, for increasing chronic disease risk in children?
McPherson, N.O.
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.
1995
FRAXE and mental retardation
Mulley, J.
;
Yu, S.
;
Loesch, D.
;
Hay, D.
;
Donnelly, A.
;
Gedeon, A.
;
Carbonell, P.
;
Lopez, I.
;
Glover, G.
;
Garbarron, I.
;
Yu, P.
;
Baker, E.
;
Haan, E.
;
Hockey, A.
;
Knight, S.
;
Daview, K.
;
Richards, R.
;
Sutherland, G.
2018
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
Jansen, S.
;
Hoischen, A.
;
Coe, B.
;
Carvill, G.
;
van Esch, H.
;
Bosch, D.
;
Andersen, U.
;
Baker, C.
;
Bauters, M.
;
Bernier, R.
;
van Bon, B.
;
Claahsen-van der Grinten, H.
;
Gecz, J.
;
Gilissen, C.
;
Grillo, L.
;
Hackett, A.
;
Kleefstra, T.
;
Koolen, D.
;
Kvarnung, M.
;
Larsen, M.
;
et al.
1998
Localisation of the human NMDAR2D receptor subunit gene (GRIN2D) to 19q13.1-qter, the NMDAR2A subunit gene to 16p13.2 (GRIN2A), and the NMDAR2C subunit gene (GRIN2C) to 17q24-q25 using somatic cell hybrid and radiation hybrid mapping panels.
Kalsi, G.
;
Whiting, P.
;
Bourdelles, B.
;
Callen, D.
;
Barnard, E.
;
Gurling, H.
2017
Modelling predictors of molecular response to frontline imatinib for patients with chronic myeloid leukaemia
Banjar, H.
;
Ranasinghe, D.
;
Brown, F.
;
Adelson, D.
;
Kroger, T.
;
Leclercq, T.
;
White, D.
;
Hughes, T.
;
Chaudhri, N.
;
Speletas, M.
Discover
Author
4
Gecz, J.
4
Mulley, J.
3
et al.
3
Sutherland, G.
2
Donnelly, A.
2
Eyre, H.
2
Gedeon, A.
1
Adadey, S.M.
1
Adelson, D.
1
Andersen, U.
.
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12
Humans
9
Female
8
Male
6
Adolescent
5
Child
5
Middle Aged
4
Base Sequence
4
Intellectual Disability
3
Aged
3
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