Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Page L. Sorensen"'
Publikováno v:
American Journal of Medical Genetics Part A. 161:59-69
We describe an ongoing pilot project in which newborn screening (NBS) for FMR1 mutations and subsequent cascade testing are performed by the MIND Institute at the University of California, Davis Medical Center (UCDMC). To date, out of 3042 newborns i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dd0be80f673defc958efa8fcb6047f0
https://doi.org/10.1002/ajmg.a.35680
https://doi.org/10.1002/ajmg.a.35680
Autor:
Randi J Hagerman, Flora Tassone, Kirin Basuta, Guadalupe Mendoza-Morales, Louise W. Gane, Page L. Sorensen, Andrea Schneider
Publikováno v:
American journal of medical genetics. Part A. (5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cf3ed48b674ca1c57cfc8d0d390798f
https://pubmed.ncbi.nlm.nih.gov/22488807
https://pubmed.ncbi.nlm.nih.gov/22488807
Autor:
Randi J Hagerman, Crystal Hervey, Luis F. Campos, Kylee Cook, Jacky Au, Weerasak Chonchaiya, Danh V. Nguyen, Flora Tassone, Yi Mu, Elizabeth Berry-Kravis, Page L. Sorensen, L. Wang, K. Lohse, Agustini Utari, Louise W. Gane
Publikováno v:
Clinical genetics. 78(1)
Women with the fragile X mental retardation 1 (FMR1) premutation often have concerns about neurological and medical problems, as they become older and if their fathers experience fragile X-associated tremor/ataxia syndrome (FXTAS). We therefore deter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9511d9ab4e721ba4f009cca8fb801821
https://pubmed.ncbi.nlm.nih.gov/20497189
https://pubmed.ncbi.nlm.nih.gov/20497189