Zobrazeno 1 - 3
of 3
pro vyhledávání: '"David C. Mihal"'
Publikováno v:
Seminars in Roentgenology. 52:194-208
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a99c0d193379204ba09b391b2e5173c0
https://doi.org/10.1053/j.ro.2017.04.002
https://doi.org/10.1053/j.ro.2017.04.002
Autor:
Robert E. Pyatt, Dennis K. Pearl, Shannon Garner, Betsy Schmalz, Laura Montgomery, David C. Mihal, Katie Ziegler, Pamela J. Snyder, Todd Conlan, Sayaka Hashimoto, Carolee Noonan, Britton D. Rink, Thomas W. Prior
Publikováno v:
Obstetrical & Gynecological Survey. 65:697-699
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that occurs in about 1 in 10,000 live births. SMA is caused by mutations in the survival motor neuron (SMN1) gene; homozygous deletion of exon 7 of the SMN1 gene has been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9450f5d8d69c8737c91dae33cf7399d0
https://doi.org/10.1097/ogx.0b013e318202208f
https://doi.org/10.1097/ogx.0b013e318202208f
Publikováno v:
Clinical chemistry. 53(11)
Background: Spinal muscular atrophy is a common neurodegenerative disorder that has recently been considered for inclusion in the next generation of newborn screening regimens. We sought to validate liquid microbead arrays for the identification of a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51d055ec92dc8905d9ce0a8889e03f48
https://pubmed.ncbi.nlm.nih.gov/17890438
https://pubmed.ncbi.nlm.nih.gov/17890438