Hasil Pencarian - Richard Haas
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A randomized crossover trial of elamipretide in adults with primary mitochondrial myopathy oleh Amel Karaa, Richard Haas, Amy Goldstein, Jerry Vockley, Bruce H. Cohen
Diterbitkan 2020-08-01Dapatkan teks lengkap
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Mitochondrial dysfunction associated with TANGO2 deficiency oleh Paige Heiman, Al-Walid Mohsen, Anuradha Karunanidhi, Claudette St Croix, Simon Watkins, Erik Koppes, Richard Haas, Jerry Vockley, Lina Ghaloul-Gonzalez
Diterbitkan 2022-02-01Dapatkan teks lengkap
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Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome oleh Jennifer Friedman, Lynne M. Bird, Richard Haas, Shira L. Robbins, Shareef A. Nahas, David P. Dimmock, Matthew J. Yousefzadeh, Mariah A. Witt, Laura J. Niedernhofer, Shimul Chowdhury
Diterbitkan 2021-07-01Dapatkan teks lengkap
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Primary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling network. oleh Zhe Zhang, Mai Tsukikawa, Min Peng, Erzsebet Polyak, Eiko Nakamaru-Ogiso, Julian Ostrovsky, Shana McCormack, Emily Place, Colleen Clarke, Gail Reiner, Elizabeth McCormick, Eric Rappaport, Richard Haas, Joseph A Baur, Marni J Falk
Diterbitkan 2013-01-01Dapatkan teks lengkap
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P105: QTc Prolongation in Rett syndrome: Correlation with genotype oleh Evdokia Angelidis, Arthur Beisang, Timothy Benke, Daniel Glaze, Richard Haas, Peter Heydemann, Mary Jones, Jane Lane, David Lieberman, Eric Marsh, Jeffrey Neul, Sarika Peters, Robin Ryther, Steven Skinner, Shannon Standridge, Walter Kaufmann, Alan Percy, Caroline Buchanan
Diterbitkan 2023-01-01Dapatkan teks lengkap
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Analysis of X‐inactivation status in a Rett syndrome natural history study cohort oleh Xiaolan Fang, Kameryn M. Butler, Fatima Abidi, Jennifer Gass, Arthur Beisang, Timothy Feyma, Robin C. Ryther, Shannon Standridge, Peter Heydemann, Mary Jones, Richard Haas, David N Lieberman, Eric D. Marsh, Tim A. Benke, Steve Skinner, Jeffrey L. Neul, Alan K. Percy, Michael J. Friez, Raymond C. Caylor
Diterbitkan 2022-05-01Dapatkan teks lengkap
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