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Emma-Jane Taylor
Emma-Jane Taylor
Salisbury District Hospital
Genetics
Biology
Point mutation
Pseudoautosomal region
Idiopathic short stature
2
Papers
31
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Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature
2016
American Journal of Medical Genetics Part A
David J. Bunyan
Maria Baffico
L. Capone
Silvia Vannelli
Lorenzo Iughetti
Sébastien Schmitt
Emma-Jane Taylor
Adam A. Herridge
Deborah J. Shears
Antonino Forabosco
Domenico Coviello
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Citations (18)
Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect
2014
American Journal of Medical Genetics Part A
David J. Bunyan
Emma-Jane Taylor
Vivienne Maloney
Moira Blyth
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Citations (13)
1