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Browsing publications by Dr Emma Tonkin.

Newcastle AuthorsTitleYearFull text
Dr Emma Tonkin
Pieter Eichhorn
Burhan Imamwerdi
Emerita Professor Susan Lindsay
Dr Michael Jackson
et al.
A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.32004
Dr Emma Tonkin
Tzu-Jou Wang
Dr Steven Lisgo
Professor Tom Strachan
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome2004
Dr Emma Tonkin
Emerita Professor Susan Lindsay
Professor Tom Strachan
A giant gone encoding a developmentally regulated novel member of the M28 peptidase family is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.32003
Professor Tom Strachan
Dr Emma Tonkin
Genome-wide linkage analysis identifies five candidate gene regions in the Cornelia de Lange syndrome (CdLS)2003
Dr Emma Tonkin
Dr Donna Hagan
Weiping Li
Professor Tom Strachan
Identification and characterisation of novel mammalian homologues of Drosophila polyhomeotic permits new insights into relationships between members of the polyhomeotic family2002
Dr Emma Tonkin
Pieter Eichhorn
Dr Donna Hagan
Dr Meryl Lusher
Dr Maggie Ireland
et al.
A novel gene is disrupted by a Cornelia de Lange-associated translocation breakpoint at 3q26.32001
Dr Emma Tonkin
Professor Tom Strachan
Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange Syndrome2001
Dr Emma Tonkin
Professor Tom Strachan
The Cornelia de Lange syndrome; Cytogenetic and molecular analysis, with exclusion of linkage to chromosome 3q in some familial cases1999