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Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.
Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, Wheless JW, Baumgartner JE, Roa BB, Wilson CM, Smith-Knuppel TK, Cheung MY, Whittemore VH, King TM, Northrup H. Au KS, et al. Among authors: sparagana sp. Genet Med. 2007 Feb;9(2):88-100. doi: 10.1097/gim.0b013e31803068c7. Genet Med. 2007. PMID: 17304050 Free article.
TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.
Farach LS, Gibson WT, Sparagana SP, Nellist M, Stumpel CT, Hietala M, Friedman E, Pearson DA, Creighton SP, Wagemans A, Segel R, Ben-Shalom E, Au KS, Northrup H. Farach LS, et al. Among authors: sparagana sp. Am J Med Genet A. 2017 Mar;173(3):771-775. doi: 10.1002/ajmg.a.38083. Am J Med Genet A. 2017. PMID: 28211972 Review.
Tuberous sclerosis complex.
Sparagana SP, Roach ES. Sparagana SP, et al. Curr Opin Neurol. 2000 Apr;13(2):115-9. doi: 10.1097/00019052-200004000-00001. Curr Opin Neurol. 2000. PMID: 10987566 Review.
Diagnosis of tuberous sclerosis complex.
Roach ES, Sparagana SP. Roach ES, et al. Among authors: sparagana sp. J Child Neurol. 2004 Sep;19(9):643-9. doi: 10.1177/08830738040190090301. J Child Neurol. 2004. PMID: 15563009 Review.
52 results