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Page 1
Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review.
Sugisawa C, Takamizawa T, Abe K, Hasegawa T, Shiga K, Sugawara H, Ohsugi K, Muroya K, Asakura Y, Adachi M, Daitsu T, Numakura C, Koike A, Tsubaki J, Kitsuda K, Matsuura N, Taniyama M, Ishii S, Satoh T, Yamada M, Narumi S. Sugisawa C, et al. Among authors: narumi s. J Clin Endocrinol Metab. 2019 Dec 1;104(12):6229-6237. doi: 10.1210/jc.2019-00657. J Clin Endocrinol Metab. 2019. PMID: 31504637
[11Beta-hydroxylase deficiency].
Narumi S, Hasegawa T. Narumi S, et al. Nihon Rinsho. 2006 May 28;Suppl 1:699-701. Nihon Rinsho. 2006. PMID: 16776252 Review. Japanese. No abstract available.
Radiological evolution in IMAGe association: a case report.
Amano N, Naoaki H, Ishii T, Narumi S, Hachiya R, Nishimura G, Hasegawa T. Amano N, et al. Among authors: narumi s. Am J Med Genet A. 2008 Aug 15;146A(16):2130-3. doi: 10.1002/ajmg.a.32425. Am J Med Genet A. 2008. PMID: 18627061
Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray.
Narumi S, Numakura C, Shiihara T, Seiwa C, Nozaki Y, Yamagata T, Momoi MY, Watanabe Y, Yoshino M, Matsuishi T, Nishi E, Kawame H, Akahane T, Nishimura G, Emi M, Hasegawa T. Narumi S, et al. Am J Med Genet A. 2010 Jan;152A(1):133-40. doi: 10.1002/ajmg.a.33177. Am J Med Genet A. 2010. PMID: 20034086
Ruvalcaba syndrome revisited.
Adachi M, Muroya K, Asakura Y, Kurosawa K, Nishimura G, Narumi S, Hasegawa T. Adachi M, et al. Among authors: narumi s. Am J Med Genet A. 2010 Jul;152A(7):1854-7. doi: 10.1002/ajmg.a.33429. Am J Med Genet A. 2010. PMID: 20583188 No abstract available.
450 results