Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Sarah McCalmon"'
Autor:
Keith Nykamp, Michael Anderson, Martin Powers, John Garcia, Blanca Herrera, Yuan-Yuan Ho, Yuya Kobayashi, Nila Patil, Janita Thusberg, Marjorie Westbrook, Scott Topper, Sienna Aguilar, Swaroop Aradhya, Daniel Beltran, Brandon Bunker, Amy Daly, Anne Deucher, Tali Ekstein, Ali Entezam, Karl Erhard, Ed Esplin, Jennifer Fulbright, Amy Fuller, Kristen McDonald Gibson, Tina Hambuch, Rachel Harte, Christy Hartshorne, Eden Haverfield, Nastaran Heidari, Michelle Hogue, Daniela Iacoboni, Britt Johnson, Hio Chung Kang, Rachel Lewis, Shiloh Martin, Sarah McCalmon, Scott Michalski, Cindy Morgan, Laura Murillo, Piper Nicolosi, Karen Ouyang, Carolina Pardo, Rita Quintana, Marina Rabideau, Darlene Riethmaier, Amanda Stafford, Jackie Tahiliani, Chris Tan, S. Paige Taylor, Shu-Huei Wang, Hannah White, Ian Wilson, Tom Winder, Michelle K. Zeman
Publikováno v:
Genetics in Medicine
Purpose The 2015 American College of Medical Genetics and Genomics–Association for Molecular Pathology (ACMG–AMP) guidelines were a major step toward establishing a common framework for variant classification. In practice, however, several aspect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a146539648054315d9d756d7fc859d77
https://doi.org/10.1038/s41436-019-0624-9
https://doi.org/10.1038/s41436-019-0624-9
Autor:
Paul J. Hagerman, Sarah McCalmon, Erick Loomis, Randi J Hagerman, David R. Rank, Luke Hickey, Jun Yin, Paul Peluso, Flora Tassone, John Eid
Publikováno v:
Genome Research. 23:121-128
The human fragile X mental retardation 1 (FMR1) gene contains a (CGG)n trinucleotide repeat that is responsible for a number of heritable disorders affecting both early neurodevelopment and late-onset neurodegeneration (Willemsen et al. 2011; Leehey
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6aa55f98d40cd428821eec759542bac
https://doi.org/10.1101/gr.141705.112
https://doi.org/10.1101/gr.141705.112
Publikováno v:
Neurobiology of Aging. 25:S260
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::43350b79072638f17bec89154bcf9dc5
https://doi.org/10.1016/s0197-4580(04)80873-x
https://doi.org/10.1016/s0197-4580(04)80873-x