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Jorge Robles
Jorge Robles
ARUP Laboratories
Genetics
Biology
Genetic variability
Genotype
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2
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36
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Detection of Large Rearrangements in the Cystic Fibrosis Transmembrane Conductance Regulator Gene by Multiplex Ligation-Dependent Probe Amplification Assay When Sequencing Fails to Detect Two Disease-Causing Mutations
2010
Genetic Testing and Molecular Biomarkers
Annika M. Svensson
Lan-Szu Chou
Christine E. Miller
Jorge Robles
Jeffrey Swensen
Karl V. Voelkerding
Rong Mao
Elaine Lyon
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Citations (14)
Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: Hereditary hemorrhagic telangiectasia as a model
2008
Experimental and Molecular Pathology
Pinar Bayrak-Toydemir
Jamie McDonald
Rong Mao
Amit Phansalkar
Friederike Gedge
Jorge Robles
David E. Goldgar
Elaine Lyon
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Citations (22)
1