Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Izabela D Karbassi"'
Autor:
Heidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, Pinar Bayrak-Toydemir, Hunter Best, Rhonda Brandon, Jillian G Buchan, Elizabeth C Chao, Elaine Chen, Jacob Clifford, Ana S Cohen, Laura K Conlin, Soma Das, Kyle W Davis, Daniela del Gaudio, Florencia Del Viso, Christina DiVincenzo, Marcia Eisenberg, Lucia Guidugli, Monia B Hammer, Steven M Harrison, Kathryn E Hatchell, Lindsay Havens Dyer, Lily U Hoang, James M Holt, Vaidehi Jobanputra, Izabela D Karbassi, Hutton M Kearney, Melissa A Kelly, Jacob M Kelly, Michelle L Kluge, Timothy Komala, Paul Kruszka, Lynette Lau, Matthew S Lebo, Christian R Marshall, Dianalee McKnight, Kirsty McWalter, Yan Meng, Narasimhan Nagan, Christian S Neckelmann, Nir Neerman, Zhiyv Niu, Vitoria K Paolillo, Sarah A Paolucci, Denise Perry, Tina Pesaran, Kelly Radtke, Kristen J Rasmussen, Kyle Retterer, Carol J Saunders, Elizabeth Spiteri, Christine M Stanley, Anna Szuto, Ryan J Taft, Isabelle Thiffault, Brittany C Thomas, Amanda Thomas-Wilson, Erin Thorpe, Timothy J Tidwell, Meghan C Towne, Hana Zouk
Variants of uncertain significance (VUS) are a common result of diagnostic genetic testing and can be difficult to manage with potential misinterpretation and downstream costs, including time investment by clinicians. We investigated the rate of VUS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5d80f0f4b92e956df2d629d73bc45bef
https://doi.org/10.1101/2022.09.21.22279949
https://doi.org/10.1101/2022.09.21.22279949
Autor:
Natasha Zr, Steele, Alison R, Bright, Suzee E, Lee, Jamie C, Fong, Luke W, Bonham, Anna, Karydas, Izabela D, Karbassi, Mochtar, Pribadi, Marc A, Meservey, Matthew C, Gallen, Eliana Marisa, Ramos, Khalida, Liaquat, Carol C, Hoffman, Meagan R, Krasner, Whitney, Dodge, Bruce, L Miller, Giovanni, Coppola, Katherine P, Rankin, Jennifer S, Yokoyama, Joseph J, Higgins
Publikováno v:
Advances in genomics and genetics. 8
BACKGROUND: Frontotemporal lobar degeneration (FTLD) is a leading cause of dementia, and elucidating its genetic underpinnings is critical. FTLD research centers typically recruit patient cohorts that are limited by the center’s specialty and the w
Autor:
Shamina Mitchell, Izabela D. Karbassi, Richard A. Britten, György Lonart, Richard R. Drake, Sonia K. Keeney, Sylvia J. Singletary, Julius O. Nyalwidhe, Angela M. Johnson, Larry D. Sanford
Publikováno v:
Health Physics. 98:196-203
In the event of a nuclear detonation, thousands of people will be exposed to non-lethal radiation doses. There are multiple long-term health concerns for exposed individuals who receive non-lethal radiation exposures. Low doses of radiation, especial
Autor:
Christopher E. Wilkins, Izabela D. Karbassi, Lisa H. Cazares, O. John Semmes, Richard R. Drake, Julius O. Nyalwidhe, Raymond S. Lance
Publikováno v:
Journal of Proteome Research. 8:4182-4192
MALDI-TOF mass spectrometry is a widely used technique for serum protein expression profiling and biomarker discovery. Many profiling strategies typically employ chemical affinity beads or surfaces to decrease sample complexity of dynamic fluids such
Autor:
Izabela D. Karbassi, Julius O. Nyalwidhe, Christopher E. Wilkins, Lisa H. Cazares, Raymond S. Lance, O. John Semmes, Richard R. Drake
Publikováno v:
Journal of Proteome Research; Sep2009, Vol. 8 Issue 9, p4182-4192, 11p