Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Metcalf, James D."'
Autor:
Prior, Thomas W., Bayrak-Toydemir, Pinar, Lynnes, Ty C., Mao, Rong, Metcalf, James D., Muralidharan, Kasinathan, Iwata-Otsubo, Aiko, Pham, Ha T., Pratt, Victoria M., Qureshi, Shumaila, Requesens, Deborah, Shen, Junqing, Vetrini, Francesco, Kalman, Lisa
Publikováno v:
In The Journal of Molecular Diagnostics January 2021 23(1):103-110
Autor:
Deeb, Kristin K., Metcalf, James D., Sesock, Kaitlin M., Shen, Junqing, Wensel, Christine A., Rippel, Larisa I., Smith, Michelle, Chapman, Mark S., Zhang, Shulin
Publikováno v:
In The Journal of Molecular Diagnostics July 2015 17(4):360-365
Autor:
Prior, Thomas W., Bayrak-Toydemir, Pinar, Lynnes, Ty C., Mao, Rong, Metcalf, James D., Muralidharan, Kasinathan, Iwata-Otsubo, Aiko, Pham, Ha T., Pratt, Victoria M., Qureshi, Shumaila, Requesens, Deborah, Shen, Junqing, Vetrini, Francesco, Kalman, Lisa
Publikováno v:
J Mol Diagn
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=pmid________::a83c7adda65ebcb10d55a10f18b9ea31
https://europepmc.org/articles/PMC9641717/
https://europepmc.org/articles/PMC9641717/
Autor:
Deeb, Kristin K., Metcalf, James D., Sesock, Kaitlin M., Shen, Junqing, Wensel, Christine A., Rippel, Larisa I., Smith, Michelle, Chapman, Mark S., Zhang, Shulin
Publikováno v:
The Journal of Molecular Diagnostics; July 2015, Vol. 17 Issue: 4 p360-365, 6p