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Steven J. Brookes
Steven J. Brookes
St James's University Hospital
Biology
Genetics
Missense mutation
Usher syndrome
PEX1
2
Papers
43
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Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta
2017
European Journal of Human Genetics
Claire E. L. Smith
Laura L. E. Whitehouse
James A. Poulter
Steven J. Brookes
Peter F. Day
Francesca Soldani
Jennifer Kirkham
Chris F. Inglehearn
Alan J. Mighell
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Citations (13)
Spectrum of PEX1 and PEX6 variants in Heimler syndrome
2016
European Journal of Human Genetics
Claire E. L. Smith
James A. Poulter
Alex V. Levin
Jenina E. Capasso
Susan Price
Tamar Ben-Yosef
Reuven Sharony
William G. Newman
R.C. Shore
Steven J. Brookes
Alan J. Mighell
Chris F. Inglehearn
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Citations (30)
1