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Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.
Zhang SY, Clark NE, Freije CA, Pauwels E, Taggart AJ, Okada S, Mandel H, Garcia P, Ciancanelli MJ, Biran A, Lafaille FG, Tsumura M, Cobat A, Luo J, Volpi S, Zimmer B, Sakata S, Dinis A, Ohara O, Garcia Reino EJ, Dobbs K, Hasek M, Holloway SP, McCammon K, Hussong SA, DeRosa N, Van Skike CE, Katolik A, Lorenzo L, Hyodo M, Faria E, Halwani R, Fukuhara R, Smith GA, Galvan V, Damha MJ, Al-Muhsen S, Itan Y, Boeke JD, Notarangelo LD, Studer L, Kobayashi M, Diogo L, Fairbrother WG, Abel L, Rosenberg BR, Hart PJ, Etzioni A, Casanova JL. Zhang SY, et al. Among authors: fukuhara r. Cell. 2018 Feb 22;172(5):952-965.e18. doi: 10.1016/j.cell.2018.02.019. Cell. 2018. PMID: 29474921 Free PMC article.
Clinical characteristics of perinatal lethal hypophosphatasia: a report of 6 cases.
Nakamura-Utsunomiya A, Okada S, Hara K, Miyagawa S, Takeda K, Fukuhara R, Nakata Y, Hayashidani M, Tachikawa K, Michigami T, Ozono K, Kobayashi M. Nakamura-Utsunomiya A, et al. Among authors: fukuhara r. Clin Pediatr Endocrinol. 2010 Jan;19(1):7-13. doi: 10.1297/cpe.19.7. Epub 2010 Mar 11. Clin Pediatr Endocrinol. 2010. PMID: 23926372 Free PMC article.
Neonatal Outcomes of Very Low Birth Weight and Very Preterm Neonates: An International Comparison.
Shah PS, Lui K, Sjörs G, Mirea L, Reichman B, Adams M, Modi N, Darlow BA, Kusuda S, San Feliciano L, Yang J, Håkansson S, Mori R, Bassler D, Figueras-Aloy J, Lee SK; International Network for Evaluating Outcomes (iNeo) of Neonates. Shah PS, et al. J Pediatr. 2016 Oct;177:144-152.e6. doi: 10.1016/j.jpeds.2016.04.083. Epub 2016 May 24. J Pediatr. 2016. PMID: 27233521
A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia.
Hasegawa K, Fukuhara R, Moriwake T, Tanaka H, Higuchi Y, Yamashita M, Tsukahara H. Hasegawa K, et al. Among authors: fukuhara r. Am J Med Genet A. 2016 May;170A(5):1370-2. doi: 10.1002/ajmg.a.37557. Epub 2016 Jan 11. Am J Med Genet A. 2016. PMID: 26754866 No abstract available.
161 results