Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Deborah Requesens"'
Autor:
Lisa V. Kalman, Andrea Gaedigk, Victoria M. Pratt, Deborah Requesens, Ty C. Lynnes, Francesco Vetrini, Ulrich Broeckel, D. Brian Dawson, Amy Turner, Elizabeth B. Medeiros, Ann M. Moyer
Publikováno v:
The Journal of Molecular Diagnostics. 23:952-958
Pharmacogenetic testing is increasingly available from clinical and research laboratories. However, only a limited number of quality control and other reference materials are currently available for many of the variants that are tested. The Associati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bc684666479c07cb9e7a32c092363854
https://doi.org/10.1016/j.jmoldx.2021.04.012
https://doi.org/10.1016/j.jmoldx.2021.04.012
Autor:
Pinar Bayrak-Toydemir, Junqing Shen, Rong Mao, James D. Metcalf, Victoria M. Pratt, Aiko Iwata-Otsubo, Thomas W. Prior, Ty C. Lynnes, Shumaila Qureshi, Ha T. Pham, Francesco Vetrini, Kasinathan Muralidharan, Lisa V. Kalman, Deborah Requesens
Publikováno v:
The Journal of Molecular Diagnostics. 23:103-110
Spinal muscular atrophy (SMA) is an autosomal recessive disorder predominately caused by bi-allelic loss of the SMN1 gene. Increased copies of SMN2, a low functioning nearly identical paralog, are associated with a less severe phenotype. SMA was rece
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7a44ca04c8730c66122101236280c7b9
https://doi.org/10.1016/j.jmoldx.2020.10.011
https://doi.org/10.1016/j.jmoldx.2020.10.011
Autor:
Debra J. H. Mathews, Samuel Sander-Effron, Laura B. Scheinfeldt, Nahid Turan, Gretchen Smith, Deborah Requesens
Publikováno v:
Biopreservation and Biobanking
Microsatellites, or MSATs, offer a fast and cost-effective way for biobanks to establish a biospecimen genetic profile. Importantly, this genetic profile can be used to authenticate multiple submissions derived from the same individual as well as bio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42616ab4b8ecea6eb71cb6ec264494e8
https://pubmed.ncbi.nlm.nih.gov/34468209
https://pubmed.ncbi.nlm.nih.gov/34468209
Autor:
Victoria M, Pratt, Amy, Turner, Ulrich, Broeckel, D Brian, Dawson, Andrea, Gaedigk, Ty C, Lynnes, Elizabeth B, Medeiros, Ann M, Moyer, Deborah, Requesens, Francesco, Vetrini, Lisa V, Kalman
Publikováno v:
J Mol Diagn
Pharmacogenetic testing is increasingly available from clinical and research laboratories. However, only a limited number of quality control and other reference materials are currently available for many of the variants that are tested. The Associati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cbac6df01b1b2eb95c677a72f3966526
https://pubmed.ncbi.nlm.nih.gov/34020041
https://pubmed.ncbi.nlm.nih.gov/34020041