Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Georgianne Arnold"'
Autor:
Georgianne Arnold, Shawn Christ, Uta Lichter-Konecki, Dorothy Grange, Janet Thomas, Gerard Berry, Nicola Longo, Desiree White, Cary Harding
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100895- (2024)
Externí odkaz:
https://doaj.org/article/3fff5d08d8454e4db203d09529181a73
Autor:
Peter Nelson, Cate Walsh Vockley, Georgianne Arnold, Jirair Bedoyan, Amina Kunovac, Lindsey Kelly, Dara Kozak, Alexander Yatsenko, Jennifer Atkinson, Adrian Lee, Daniel Bellissimo, Jerry Vockley, Lina Ghaloul-Gonzalez
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100285- (2023)
Externí odkaz:
https://doaj.org/article/36553b7314034c7c880095f365d79d25
Publikováno v:
Genetic Disorders and the Fetus. :831-867
Publikováno v:
Pediatrics. 149(4)
Autor:
Rani H. Singh, Marybeth Hummel, Susan Romie, Sheela Shrestha, Chin to Fong, Katie Coakley, Hilary J. Vernon, Dennis Bartholomew, Kelly E. Jackson, Kristin D'Aco, Dwight D. Koeberl, Paula Engelking, Mathew J. Edick, Melissa Samons, Nancy D. Leslie, David Dimmock, Joyanna Hansen, Sandy vanCalcar, Sonja Henry, Barbara Burton, Sarah G. Hainline, Rebecca Loman, Cecilia Rajakaruna, Esperanza Font-Montgomery, Alvaro H. Serrano Russi, Cynthia A. Cameron, Ada Hamosh, Jennie Wilkins, Georgianne L. Arnold, Nancy Ambrose, Cassie Bird, Alexander Asamoah, Yong-hui Jiang, Nancy Smith, David Kronn, Melanie Goff, Emily Phillips, Jerry Vockley, Lauren Dwyer, Sangeetha Lakshman, Adrya Stembridge, Gerald Feldman, Cate Walsh-Vockley, Paul Levy, Barbara K. Burton, Quinn Stein, Loren D.M. Pena, Priya S. Kishnani, Susan Berry, Laura Davis-Keppen, Melinda Dodge, William B. Rizzo, Machelle Dawson, George Hoganson, Kristi Bentler, Kaitlin Justice, Ayesha Ahmad, Richard Erbe, Sara A. Elsbecker, Theresa Hart, Jessica Scott Schwoerer, Susan A. Berry, Shaohui Zhai, William J. Rhead, Tara Chandra Narumanchi, Bryan Hainline, Dawn Peck, Kara Goodin, Sara Elsbecker, Sally J. Hiner, Janet Thomas, Ashley Swan, Racheal Powers, Sue Lipinski, Clare Edano, Georgianne Arnold
Publikováno v:
Molecular Genetics and Metabolism. 119:75-82
Introduction There is limited understanding of relationships between genotype, phenotype and other conditions contributing to health in neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) identified through newborn screening.
Autor:
Barbara L. Asselin, Georgianne Arnold, Sherry L. Bayliff, Christopher E. Belcher, Deena Berkowitz, Jeffrey Blake, Christopher F. Bolling, Deborah Borchers, Brittanny Liam Boulanger, Peter N. Bowers, Paula K. Braverman, Carmelita V. Britton, Robert A. Broughton, Ann Buchanan, Gale R. Burstein, James R. Campbell, Kathleen M. Campbell, Lynn R. Campbell, Margaret‐Ann Carno, Patrick L. Carolan, Mary T. Caserta, Heidi A. Castillo, Kathryn Castle, Peter Chang, Sharon F. Chen, Eulalia R.Y. Cheng, Elizabeth K. Cherot, Patricia R. Chess, Olivia Chiang, Barbara A. Chini, Jill M. Cholette, Cynthia Christy, Emma Ciafaloni, Carolyn Cleary, Lisa Loeb Colton, Gregory P. Conners, Heidi V. Connolly, Stephen Cook, Christopher Copenhaver, Elliott L. Crow, Therese Cvetkovich, David Cywinski, Kristen Smith Danielson, Dorothy M. Delisle, Larry Denk, Lee A. Denson, George T. Drugas, Carolyn Piver Dukarm, Jason G. Emmick, Gus Gibbons Emmick, Oscar Escobar, Anna F. Fakadej, Richard A. Falcone, S. Nichole Feeney, Thomas J. Fischer, Donna J. Fisher, Amy Fix, Chin‐To Fong, Cynthia L. Fox, D. Steven Fox, Robert J. Freishtat, Madelyn Garcia, Lynn C. Garfunkel, Matthew D. Gearinger, Mary Ellen Gellerstedt, John Girotto, Michelle A. Grenier, Alka Goyal, Maryellen E. Gusic, Caroline B. Hall, Jill S. Halterman, David W. Hannon, William G. Harmon, J. Peter Harris, Amy Heneghan, Neil E. Herendeen, Joeli Hettler, John L. Hick, Andrea S. Hinkle, Alejandro Hoberman, Christopher H. Hodgman, Allison L. Holm, Mark A. Hostetler, Cynthia R. Howard, Stephanie Sansoni Hsu, William C. Hulbert, Robert Humphreys, Jon Hutchinson, Susan Hyman, Carolyn Jacobs Parks, Andree Jacobs‐Perkins, Sandra H. Jee, Nicholas Jospe, Steven Joyce, Jeffrey M. Kaczorowski, Indra Kancitis, James W. Kendig, John Knight, David N. Korones, Peter A. Kouides, Richard Kreipe, Diana Barnett Kudes, Jennifer M. Kwon, Marc S. Lampell, Meredith Landorf, Nancy E. Lanphear, Jeffrey H. Lee, Lucia H. Lee, Thomas J.A. Lehman, Paul Lehoullier, Norma B. Lerner, Gregory S. Liptak, Ann M. Loeffler, K. Makoroff, Elizabeth Mannick, Christina M. Mccann, Carol A. Mccarthy, Michael E. Mcconnell, Alan M. Mendelsohn, Ram K. Menon, Robert A. Mevorach, Ayesa N. Mian, Heather Michalak, Daniel E. Miga, Nicole L. Mihalopoulos, Jonathan W. Mink, M. Susan Moyer, Suzanne Fredrickson Mullin, Charles M. Myer, Ran Namgung, Jonathan F. Nasser, Robert Needlman, Joseph A. Nicholas, Maureen Novak, Samuel Nurko, Craig Orlowski, Ponrat Pakpreo, James Palis, Murray H. Passo, Joanne Pedro‐Carroll, Walter Pegoli, Karen S. Powers, Susan Haller Psaila, Ronald Rabinowitz, Marc A. Raslich, Karen L. Resch, Meredith E. Reynolds, Matthew Richardson, Brett Robbins, Mark Roddy, Dennis Roy, Leticia Manning Ryan, Sheryl A. Ryan, Stanley J. Schaffer, Lora L. Schauer, Charles Schubert, George J. Schwartz, Steven Scofield, George B. Segel, Edgard A. Segura, Lorna M. Seybolt, Nader Shaikh, Ronald L. Sham, Laura Jean Shipley, Benjamin L. Shneider, David M. Siegel, Mark Scott Smith, R. Dennis Steed, Moira A. Szilagyi, Susanne E. Tanski, Danielle Thomas‐Taylor, Svetlana Tisma‐Dupanovic, John J. Treanor, C. Elizabeth Trefts, William T. Tsai, Reginald Tsang, Elise W. Van Der Jagt, Jon A. Vanderhoof, William S. Varade, Kathleen M. Ventre, Michael K. Visick, Brad W. Warner, Geoffrey A. Weinberg, Melanie Wellington, David R. White, Susan Wiley, Robert R. Wittler, Bryan J. Wolhwend, Jonathan P. Wood, Kimberly A. Workowski, Daniel Yawman, Roger A. Yeager, Rosemary J. Young
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::714c6b84075e08c30d31d8385aa3b97d
https://doi.org/10.1016/b978-032303506-4.10363-3
https://doi.org/10.1016/b978-032303506-4.10363-3
Publikováno v:
Pediatric and Developmental Pathology. :1
Publikováno v:
Pediatric Research. 39:149-149
De novo marker chromosomes and/or subtle structural aberrations may be recognized but not defined by routine banding or FISH analysis, and this creates difficulties in specific diagnosis and in pediatric genetic counseling. In this study, we applied