Showing 1 - 7 results of 7 for search 'Kevin A Strauss', query time: 0.03s Refine Results
  1. 1
    Rescue of GM3 synthase deficiency by spatially controlled, rAAV-mediated ST3GAL5 delivery

    Rescue of GM3 synthase deficiency by spatially controlled, rAAV-mediated ST3GAL5 delivery by Huiya Yang, Robert H. Brown Jr., Dan Wang, Kevin A. Strauss, Guangping Gao

    Published 2023-05-01
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  2. 2
    Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria

    Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria by Vikram K. Raghu, Steven F. Dobrowolski, Rakesh Sindhi, Kevin A. Strauss, George V. Mazariegos, Jerry Vockley, Kyle Soltys

    Published 2022-06-01
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  3. 3
    Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency.

    Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency. by Antje Motzek, Jelena Knežević, Olivier J Switzeny, Alexis Cooper, Ivo Barić, Robert Beluzić, Kevin A Strauss, Erik G Puffenberger, S Harvey Mudd, Oliver Vugrek, Ulrich Zechner

    Published 2016-01-01
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  4. 4
    Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history.

    Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history. by Vincent J Carson, Erik G Puffenberger, Lauren E Bowser, Karlla W Brigatti, Millie Young, Dominika Korulczyk, Ashlin S Rodrigues, KaLynn K Loeven, Kevin A Strauss

    Published 2018-01-01
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  5. 5
    Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B

    Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B by Katie B. Williams, Michael Horst, Millie Young, Christine Pascua, Erik G. Puffenberger, Karlla W. Brigatti, Claudia Gonzaga-Jauregui, Alan R. Shuldiner, Samuel Gidding, Kevin A. Strauss, Devyani Chowdhury

    Published 2022-03-01
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  6. 6
    WiTNNess: An international natural history study of infantile‐onset TNNT1 myopathy

    WiTNNess: An international natural history study of infantile‐onset TNNT1 myopathy by Kevin A. Strauss, Vincent J. Carson, Emilienne Bolettieri, Mariah Everett, Ashton Bollinger, Lauren E. Bowser, Keturah Beiler, Millie Young, Simon Edvardson, Nitay Fraenkel, Adele D'Amico, Enrico Bertini, Lokesh Lingappa, Devyani Chowdhury, Linda P. Lowes, Megan Iammarino, Lindsay N. Alfano, Karlla W. Brigatti

    Published 2023-11-01
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  7. 7
    Genetic mapping and exome sequencing identify variants associated with five novel diseases.

    Genetic mapping and exome sequencing identify variants associated with five novel diseases. by Erik G Puffenberger, Robert N Jinks, Carrie Sougnez, Kristian Cibulskis, Rebecca A Willert, Nathan P Achilly, Ryan P Cassidy, Christopher J Fiorentini, Kory F Heiken, Johnny J Lawrence, Molly H Mahoney, Christopher J Miller, Devika T Nair, Kristin A Politi, Kimberly N Worcester, Roni A Setton, Rosa Dipiazza, Eric A Sherman, James T Eastman, Christopher Francklyn, Susan Robey-Bond, Nicholas L Rider, Stacey Gabriel, D Holmes Morton, Kevin A Strauss

    Published 2012-01-01
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