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收藏Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases
Grunseich, Christopher; Sarkar, Nathan; Lu, Joyce; Owen, Mallory; Schindler, Alice; Calabresi, Peter A.; Sumner, Charlotte J.; Roda, Ricardo H.; Chaudhry, Vinay; Lloyd, Thomas E.; Crawford, Thomas O.; Subramony, S. H.; Oh, Shin J.; Richardson, Perry; Tanji, Kurenai; Kwan, Justin Y.; Fischbeck, Kenneth H.; Mankodi, Ami
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收藏Smads as muscle biomarkers in amyotrophic lateral sclerosis
Si, Ying; Cui, Xianqin; Kim, Soojin; Wians, Robert; Sorge, Robert; Oh, Shin J.; Kwan, Thaddeus; AlSharabati, Mohammad; Lu, Liang; Claussen, Gwen; Anderson, Tina; Yu, Shaohua; Morgan, Dylan; Kazamel, Mohamed; King, Peter H.
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收藏Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation
Sato, I.; Wu, S.; Ibarra, M. C. A.; Hayashi, Y. K.; Fujita, H.; Tojo, M.; Oh, S. J.; Nonaka, I.; Noguchi, S.; Nishino, I.
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收藏Distal spinal and bulbar muscular atrophy caused by dynactin mutation
Puls, I; Oh, SJ; Sumner, CJ; Wallace, KE; Floeter, MK; Mann, EA; Kennedy, WR; Wendelschafer-Crabb, G; Vortmeyer, A; Powers, R; Finnegan, M; Holzbaurl, ELF; Fischbeck, KH; Ludlow, CL
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