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Martin Stofanko

University of Birmingham

8

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191

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Accurate, Fast and Cost-Effective Diagnostic Test for Monosomy 1p36 Using Real-Time Quantitative PCR

2014 Disease Markers
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Simple, Rapid and Inexpensive Quantitative Fluorescent PCR Method for Detection of Microdeletion and Microduplication Syndromes

2013 PLOS ONE
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Phenotype of Williams–Beuren syndrome in Brazilian patients: Comments on the article by Patil et al. [2012] and discussion of variable phenotypes in distinct populations

2013 American Journal of Medical Genetics Part A
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A New Case of Keratoconus Associated with Williams-Beuren Syndrome

2013 Ophthalmic Genetics
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A Misexpression Screen to Identify Regulators of Drosophila Larval Hemocyte Development

2008 Genetics
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