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Markus Pfister

HNO-Praxis ·
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Area of research
Clinical Biochemistry · Sensory Systems
Research interest
Research interests include Metabolism and Genetic Disorders, Hearing, Cochlea, Tinnitus, Genetics, Dermatological and Skeletal Disorders, and Mitochondrial Function and Pathology.
h-index
35
citations
4,787
works
1,909
NIH funding
—
primary concept
—
email
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Recent publications

Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and<i>PEX26</i>mutated in Heimler syndrome
Molecular Genetics & Genomic Medicine 2017cited by 64position: middledoi

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