Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Dynio Honrubia"'
Autor:
Pankaj Agrawal, Vineet Bhandari, Casie A Genetti, Margaret Parker, Timothy Yu, Lawrence Rhein, Jessica Douglas, Bharati Sinha, Pankaj B Agrawal, Alissa M D'Gama, Sonia Hills, Vanessa Young, Monica H Wojcik, Henry A Feldman, Timothy W Yu, Margaret G Parker, Tyler Allcroft, Luis Cantu, Alissa M D’Gama, Dynio Honrubia, Amy Kritzer, Robert Rothstein, Odalys Salinas, Andres Santana, Anyssa Serna, Faye Shapiro, Anjana Bhami Shenoy, Lindsey Simoncini, Aubrie Soucy Verran, Anéya Sousa, Qifei Li, Catherine Brownstein, Klaus Schmitz-Abe, Marione Tamase Newsam
Publikováno v:
BMJ Open, Vol 14, Iss 2 (2024)
Introduction Rapid genomic sequencing (rGS) in critically ill infants with suspected genetic disorders has high diagnostic and clinical utility. However, rGS has primarily been available at large referral centres with the resources and expertise to o
Externí odkaz:
https://doaj.org/article/78ff633befbb42318bff4b3af4e76c91
Autor:
Cynthia C. Morton, Rena E. Falk, Amy M. Donahue, Mary Kay Pelias, Arti Pandya, Richard J.H. Smith, Michael S. Watson, Colleen Boyle, Jay Sheehan, George C. Cunningham, Dynio Honrubia, James Skordas, Michele A. Lloyd-Puryear, Marie Mann, Aileen Kenneson, Bronya J.B. Keats, Terese Finitzo, Karl R. White, Gail Lim, Walter E. Nance, Bradford L. Therrell, Kathleen S. Arnos, William J. Kimberling, John C. Carey
Publikováno v:
Genetics in Medicine
The advent of hearing screening in newborns in many states has led to an increase in the use of genetic testing and related genetic services in the follow-up of infants with hearing loss. A significant proportion of those with congenital hearing loss
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baa987007ca2d247570d436b1b8928a1
https://doi.org/10.1097/00125817-200205000-00011
https://doi.org/10.1097/00125817-200205000-00011
Autor:
Sharon F. Kuo, Nahid G. Robertson, Anne Giersch, Barbara L. Resendes, Osamu Ohara, Cynthia C. Morton, Dynio Honrubia, Joe C. Adams
Publikováno v:
Journal of the Association for Research in Otolaryngology : JARO. 5(2)
We have cloned a novel human gene, designated PFET1 (predominantly fetal expressed T1 domain) (HUGO-approved symbol KCTD12 or C13orf2), by subtractive hybridization and differential screening of human fetal cochlear cDNA clones. Also, we have identif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea2bc87b684d359452f551b04cd91b96
https://pubmed.ncbi.nlm.nih.gov/15357420
https://pubmed.ncbi.nlm.nih.gov/15357420
Publikováno v:
Pediatric Research. 43:23-23
Studies of cardiac cellular physiology in transgenic mouse models have been limited in part by an inability to use a single technique that yields freshly isolated neonatal and adult cardiac myocytes. The goal of this project is to develop a uniform c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0599296eae78e74ef90bd3c5b1433b0e
https://doi.org/10.1203/00006450-199804001-00138
https://doi.org/10.1203/00006450-199804001-00138