Hasil Pencarian - Emily Lauer
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P625: Utility of highest pathogenic variant frequency approach for application of BA1/BS1 ACMG criteria to reduce variants of uncertain significance oleh Kyle Salsbery, Devin Oglesbee, Elizabeth Selner, Angela Pickart, Zhiyv Niu, Emily Lauer, Dawn Peck
Diterbitkan 2024-01-01Dapatkan teks lengkap
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P442: Confirmation of complex events detected by NGS oleh Lauren Choate, Amber McDonald, Patrick Lundquist, Francis Hoffman, Angela Pickart, Emily Lauer, Sarah Thieke, Rebecca Hofmeister, Erik Thorland, Cherisse Marcou
Diterbitkan 2023-01-01Dapatkan teks lengkap
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P004: Urine polyols for diagnosis of sorbitol dehydrogenase (SORD) deficiency-related peripheral neuropathy* oleh Amy White, Jordan Bontrager, William Laxen, Perry Loken, Tiffany Grider, Josef Alawneh, Vincent Carson, Emily Lauer, Angela Pickart, Zhiyv Niu, Devin Oglesbee, Dimitar Gavrilov, Silvia Tortorelli, Patricia Hall, Dietrich Matern, Michael Shy, David Herrmann, Matthew Schultz
Diterbitkan 2024-01-01Dapatkan teks lengkap
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P003: Clinical laboratory experience of frataxin quantification in blood for the diagnosis of Friedreich ataxia* oleh Iris Pantovich, Amy White, April Studinski, Weiyi Mu, Bonnie Kaas, Matthew Bower, Gisele Pino, Dawn Peck, Kyle Salsbery, Emily Lauer, Angela Pickart, Kandelaria Rumilla, Wei Shen, Zhiyv Niu, Patricia Hall, Matthew Schultz, Dimitar Gavrilov, Silvia Tortorelli, Dietrich Matern, Ralitza Gavrilova, Devin Oglesbee
Diterbitkan 2024-01-01Dapatkan teks lengkap
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