Showing 1 - 4 results of 4 for search 'Robert J Desnick', query time: 0.06s Refine Results
  1. 1
    Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants

    Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants by Vassili Tchaikovskii, Robert J. Desnick, David F. Bishop

    Published 2019
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  2. 2
    Molecular Expression and Characterization of Erythroid-Specific 5-Aminolevulinate Synthase Gain-of-Function Mutations Causing X-Linked Protoporphyria

    Molecular Expression and Characterization of Erythroid-Specific 5-Aminolevulinate Synthase Gain-of-Function Mutations Causing X-Linked Protoporphyria by David F. Bishop, Vassili Tchaikovskii, Irina Nazarenko, Robert J. Desnick

    Published 2013
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  3. 3
    Preclinical Development of a Subcutaneous ALAS1 RNAi Therapeutic for Treatment of Hepatic Porphyrias Using Circulating RNA Quantification

    Preclinical Development of a Subcutaneous ALAS1 RNAi Therapeutic for Treatment of Hepatic Porphyrias Using Circulating RNA Quantification by Amy Chan, Abigail Liebow, Makiko Yasuda, Lin Gan, Tim Racie, Martin Maier, Satya Kuchimanchi, Don Foster, Stuart Milstein, Klaus Charisse, Alfica Sehgal, Muthiah Manoharan, Rachel Meyers, Kevin Fitzgerald, Amy Simon, Robert J Desnick, William Querbes

    Published 2015
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  4. 4
    Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-Linked Protoporphyria

    Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in No... by Manisha Balwani, Dana Doheny, David F. Bishop, Irina Nazarenko, Makiko Yasuda, Harry A. Dailey, Karl E. Anderson, D. Montgomery Bissell, Joseph Bloomer, Herbert L. Bonkovsky, John D. Phillips, Lawrence Liu, Robert J. Desnick, The Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network

    Published 2013
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