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Browsing by Author Russell-Eggit, Isabelle M

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PreviewIssue DateTitleAuthor(s)
2003Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan Syndrome including severe congenital cataract, dental anomalies and mental retardationThomas, P; Thomas, T; Voss, A K; Sharma, Shiwani; Russell-Eggit, Isabelle M; Craig, Jamie E; Sale, Michele M; Mackey, David A; Wirth, M Gabriela; Gajovic, S; Clarke, M P; Gecz, Jozef; Elder, James E; Gruss, P; Fitzgerald, Liesel M; McKay, James D; Shaw, Marie A; Nicholl, A; Ross, S; Stankich, J M; Burdon, Kathryn Penelope
2004A novel mutation in the Connexin 46 Gene causes autosomal dominant congenital cataract with incomplete penetranceCraig, Jamie E; Sale, Michele M; Mackey, David A; Russell-Eggit, Isabelle M; Wirth, M Gabriela; Dickinson, Joanne L; Elder, James E; Burdon, Kathryn Penelope
2006The PITX3 gene in posterior polar congenital cataract in AustraliaBurdon, Kathryn Penelope; McKay, James D; Wirth, M Gabriela; Ruddle, Jonathan B; Russell-Eggit, Isabelle M; Bhatti, Samira; Dimasi, David Paul; Mackey, David A; Craig, Jamie E
Jul-2005The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes.McKay, James D; Patterson, B; Craig, Jamie E; Russell-Eggit, Isabelle M; Wirth, M Gabriela; Burdon, Kathryn Penelope; Hewitt, Alex W; Cohn, Amy C; Kerdraon, Y; Mackey, David A
2005The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genesMcKay, James D; Patterson, B; Russell-Eggit, Isabelle M; Wirth, M Gabriela; Burdon, Kathryn Penelope; Cohn, Amy C; Kerdraon, Y; Mackey, David A; Craig, Jamie E; Hewitt, Alex W
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