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16,984 results

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Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.
Sakakibara N, Ijuin T, Horinouchi T, Yamamura T, Nagano C, Okada E, Ishiko S, Aoto Y, Rossanti R, Ninchoji T, Awano H, Nagase H, Minamikawa S, Tanaka R, Matsuyama T, Nagatani K, Kamei K, Jinnouchi K, Ohtsuka Y, Oka M, Araki Y, Tanaka T, Harada MS, Igarashi T, Kitahara H, Morisada N, Nakamura SI, Okada T, Iijima K, Nozu K. Sakakibara N, et al. Among authors: tanaka t, tanaka r. Nephrol Dial Transplant. 2022 Jan 25;37(2):262-270. doi: 10.1093/ndt/gfab274. Nephrol Dial Transplant. 2022. PMID: 34586410
Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.
Mikami-Saito Y, Wada Y, Arai-Ichinoi N, Nakajima Y, Suzuki-Ajihara S, Murayama K, Tanaka T, Numakura C, Hamazaki T, Igarashi N, Esaki H, Kagawa R, Kono T, Sawada T, Sawada T, Nyuzuki H, Hirai H, Fumoto S, Matsuda J, Matsunaga A, Maruyama S, Yamaguchi K, Yoshino M, Totsune E, Kikuchi A, Ohura T, Kure S. Mikami-Saito Y, et al. Among authors: tanaka t. Genet Med. 2024 May 16:101165. doi: 10.1016/j.gim.2024.101165. Online ahead of print. Genet Med. 2024. PMID: 38762772 Free article.
Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Aoyama Y, Yamamoto T, Sakaguchi N, Ishige M, Tanaka T, Ichihara T, Ohara K, Kouzan H, Kinosada Y, Fukao T. Aoyama Y, et al. Among authors: tanaka t. Int J Mol Med. 2015 Jun;35(6):1554-60. doi: 10.3892/ijmm.2015.2184. Epub 2015 Apr 14. Int J Mol Med. 2015. PMID: 25872961 Free PMC article.
Newborn screening for Pompe disease in Japan.
Oda E, Tanaka T, Migita O, Kosuga M, Fukushi M, Okumiya T, Osawa M, Okuyama T. Oda E, et al. Among authors: tanaka t. Mol Genet Metab. 2011 Dec;104(4):560-5. doi: 10.1016/j.ymgme.2011.09.002. Epub 2011 Sep 10. Mol Genet Metab. 2011. PMID: 21963784
Monozygotic twins of Smith-Magenis syndrome.
Kosaki R, Okuyama T, Tanaka T, Migita O, Kosaki K. Kosaki R, et al. Among authors: tanaka t. Am J Med Genet A. 2007 Apr 1;143A(7):768-9. doi: 10.1002/ajmg.a.31647. Am J Med Genet A. 2007. PMID: 17345621 No abstract available.
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