Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Bethany Auble"'
Autor:
Andrew J. Bauer, Bethany Auble, Amy L. Clark, Tina Y. Hu, Amber Isaza, Kyle P. McNerney, Daniel L. Metzger, Lindsey Nicol, Samuel R. Pierce, Richard Sidlow
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Monocarboxylate transporter 8 (MCT8) deficiency is a rare, X-linked disorder arising from mutations in the SLC16A2 gene and resulting from dysfunctional thyroid hormone transport. This disorder is characterized by profound neurodevelopmental delay an
Externí odkaz:
https://doaj.org/article/9aa8cd96d30c4def9908a9d3f71c8e2b
Autor:
Omar Ali, Louella B. Amos, Bethany Auble, Donald Basel, Shannon H. Baumer-Mouradian, Ashley Beattie, Geetanjali Bora, Brett J. Bordini, Brian R. Branchford, Amanda M. Brandow, Ryan Byrne, Gisela G. Chelimsky, Thomas C. Chelimsky, Paula Cody, Gary Cohen, Deborah M. Costakos, Emily M. Densmore, John C. Densmore, Patricia A. Donohoue, Amy L. Drendel, Garrett Elsner, Raquel Farias-Moeller, Shayne D. Fehr, Susan Feigelman, Veronica H. Flood, Jessica Francis, Julia Fritz, Sandra Gage, Bhaskar Gurram, Matthew M. Harmelink, Kristen E. Holland, Stephen R. Humphrey, Anna R. Huppler, Susan L. Jarosz, S. Anne Joseph, Alvina R. Kansra, Virginia Keane, Robert M. Kliegman, Julie M. Kolinski, Chamindra G. Konersman, Kathleen A. Koth, Katja Kovacic, Amornluck Krasaelap, John V. Kryger, Sara M. Lauck, Tracey H. Liljestrom, Ahmad Marashly, Seema Menon, Adrian Miranda, Michelle L. Mitchell, Amy Moskop, Michael Muriello, James J. Nocton, Joshua Noe, Cynthia G. Pan, Andrew N. Pelech, Brittany Player, Jacquelyn M. Powers, Angela L. Rabbitt, Amanda Rogers, John M. Routes, Mark Simms, Rajasree Sreedharan, Alyssa Stephany, Julie Talano, Grzegorz W. Telega, Heather Toth, Scott K. Van Why, Sarah Vepraskas, James W. Verbsky, Bernadette Vitola, Kevin D. Walter, Michael Weisgerber, Peter M. Wolfgram, Sarah C. Yale, Alicia C. Zolkoske
Publikováno v:
Nelson Pediatric Symptom-Based Diagnosis: Common Diseases and their Mimics ISBN: 9780323761741
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7de430587cd708229f04dc59615cfe76
https://doi.org/10.1016/b978-0-323-76174-1.01002-6
https://doi.org/10.1016/b978-0-323-76174-1.01002-6
Autor:
Peter M. Wolfgram, Bethany Auble
Publikováno v:
Nelson Pediatric Symptom-Based Diagnosis: Common Diseases and their Mimics ISBN: 9780323761741
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4a210cb6a71764522bde3fcb0d67d3d9
https://doi.org/10.1016/b978-0-323-76174-1.00055-9
https://doi.org/10.1016/b978-0-323-76174-1.00055-9
Autor:
Bauer, Andrew J., Auble, Bethany, Clark, Amy L., Hu, Tina Y., Isaza, Amber, McNerney, Kyle P., Metzger, Daniel L., Nicol, Lindsey, Pierce, Samuel R., Sidlow, Richard
Publikováno v:
Frontiers in Pediatrics; 2024, p1-11, 11p
Publikováno v:
Hormone Research in Paediatrics; 2023 Supplement 3, Vol. 96, p1-399, 399p
Publikováno v:
Genomics & Genetics Weekly; 8/9/2024, p1068-1068, 1p