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Complex II deficiency--a case report and review of the literature.
Jain-Ghai S, Cameron JM, Al Maawali A, Blaser S, MacKay N, Robinson B, Raiman J. Jain-Ghai S, et al. Among authors: blaser s. Am J Med Genet A. 2013 Feb;161A(2):285-94. doi: 10.1002/ajmg.a.35714. Epub 2013 Jan 15. Am J Med Genet A. 2013. PMID: 23322652 Review.
Late-onset cobalamin-C disorder: a challenging diagnosis.
Ben-Omran TI, Wong H, Blaser S, Feigenbaum A. Ben-Omran TI, et al. Among authors: blaser s. Am J Med Genet A. 2007 May 1;143A(9):979-84. doi: 10.1002/ajmg.a.31671. Am J Med Genet A. 2007. PMID: 17431913
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.
Taft RJ, Vanderver A, Leventer RJ, Damiani SA, Simons C, Grimmond SM, Miller D, Schmidt J, Lockhart PJ, Pope K, Ru K, Crawford J, Rosser T, de Coo IF, Juneja M, Verma IC, Prabhakar P, Blaser S, Raiman J, Pouwels PJ, Bevova MR, Abbink TE, van der Knaap MS, Wolf NI. Taft RJ, et al. Among authors: blaser s. Am J Hum Genet. 2013 May 2;92(5):774-80. doi: 10.1016/j.ajhg.2013.04.006. Am J Hum Genet. 2013. PMID: 23643384 Free PMC article.
395 results