Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Akilan M. Saami"'
Autor:
Julia Wynn, Norma P. Tavakoli, Niki Armstrong, Jacqueline Gomez, Carrie Koval, Christina Lai, Stephanie Tang, Andrea Quevedo Prince, Yeyson Quevedo, Katrina Rufino, Laura Palacio Morales, Angela Pena, Sharon Grossman, Mary Monfiletto, Erika Ruda, Vania Jimenez, Lorraine Verdade, Ashley Jones, Michelle G. Barriga, Nandanee Karan, Alexandria Puma, Safa Sarker, Sarah Chin, Kelly Duarte, David H. Tegay, Irzaud Bacchus, Rajani Julooru, Breanne Maloney, Sunju Park, Akilan M. Saami, Lilian Cohen, Natasha Shapiro, Michele Caggana, Wendy K. Chung, Dorota Gruber
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 2, p 23 (2022)
Seven months after the launch of a pilot study to screen newborns for Duchenne Muscular Dystrophy (DMD) in New York State, New York City became an epicenter of the coronavirus disease 2019 (COVID-19) pandemic. All in-person research activities were s
Externí odkaz:
https://doaj.org/article/0226da8509424f328fd29ddc188fc586
Autor:
Sara M. Berger, Paul S. Appelbaum, Karolynn Siegel, Julia Wynn, Akilan M. Saami, Elly Brokamp, Bridget C. O’Connor, Rizwan Hamid, Donna M. Martin, Wendy K. Chung
Publikováno v:
Genetics in Medicine. 24:1878-1887
The knowledge used to classify genetic variants is continually evolving, and the classification can change on the basis of newly available data. Although up-to-date variant classification is essential for clinical management, reproductive planning, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90d362a507d1f8b76c1f3c2a8aa16672
https://doi.org/10.1016/j.gim.2022.06.002
https://doi.org/10.1016/j.gim.2022.06.002
Publikováno v:
Molecular Genetics and Metabolism. 132:S339-S340
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c44aead6c059f4fcd745ba7fc8d5fc0c
https://doi.org/10.1016/s1096-7192(21)00601-6
https://doi.org/10.1016/s1096-7192(21)00601-6
Autor:
Tavakoli, Norma P.1,2 (AUTHOR) norma.tavakoli@health.ny.gov, Gruber, Dorota3,4 (AUTHOR), Armstrong, Niki5 (AUTHOR), Chung, Wendy K.6 (AUTHOR), Maloney, Breanne1 (AUTHOR), Park, Sunju1 (AUTHOR), Wynn, Julia6 (AUTHOR), Koval‐Burt, Carrie6 (AUTHOR), Verdade, Lorraine3 (AUTHOR), Tegay, David H.3,7 (AUTHOR), Cohen, Lilian L.8 (AUTHOR), Shapiro, Natasha9 (AUTHOR), Kennedy, Annie10 (AUTHOR), Noritz, Garey11 (AUTHOR), Ciafaloni, Emma12 (AUTHOR), Weinberger, Barry13,14 (AUTHOR), Ellington, Marty14,15 (AUTHOR), Schleien, Charles3,14 (AUTHOR), Spinazzola, Regina14,16 (AUTHOR), Sood, Sunil14,17 (AUTHOR)
Publikováno v:
Annals of Clinical & Translational Neurology. Aug2023, Vol. 10 Issue 8, p1383-1396. 14p.
Autor:
Hartnett, Michael J., Lloyd-Puryear, Michele A., Tavakoli, Norma P., Wynn, Julia, Koval-Burt, Carrie L., Gruber, Dorota, Trotter, Tracy, Caggana, Michele, Chung, Wendy K., Armstrong, Niki, Brower, Amy M.
Publikováno v:
International Journal of Neonatal Screening (IJNS); Dec2022, Vol. 8 Issue 4, p50, 15p
Autor:
Wynn, Julia, Tavakoli, Norma P., Armstrong, Niki, Gomez, Jacqueline, Koval, Carrie, Lai, Christina, Tang, Stephanie, Quevedo Prince, Andrea, Quevedo, Yeyson, Rufino, Katrina, Palacio Morales, Laura, Pena, Angela, Grossman, Sharon, Monfiletto, Mary, Ruda, Erika, Jimenez, Vania, Verdade, Lorraine, Jones, Ashley, Barriga, Michelle G., Karan, Nandanee
Publikováno v:
International Journal of Neonatal Screening (IJNS); Jun2022, Vol. 8 Issue 2, p23, 10p
Autor:
Wynn, Julia, Milo Rasouly, Hila, Vasquez‐Loarte, Tania, Saami, Akilan M., Weiss, Robyn, Ziniel, Sonja I., Appelbaum, Paul S., Wright Clayton, Ellen, Christensen, Kurt D., Fasel, David, Green, Robert C., Hain, Heather S., Harr, Margaret, Hoell, Christin, Kullo, Iftikhar J, Leppig, Kathleen A., Myers, Melanie F., Pacyna, Joel E., Perez, Emma F., Prows, Cynthia A.
Publikováno v:
Journal of Genetic Counseling; Apr2022, Vol. 31 Issue 2, p447-458, 12p