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 3q26.3 | 2004 |
|
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 syndrome | 2004 |
|
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 3q26.3 | 2003 |
|
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 family | 2002 |
|
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 3q26.3 | 2001 |
|
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 Syndrome | 2001 |
|
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 cases | 1999 |
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