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A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency.
Adachi E, Nakagawa R, Tsuji-Hosokawa A, Gau M, Kirino S, Yogi A, Nakatani H, Takasawa K, Yamaguchi T, Kosho T, Murakami M, Tajima T, Hasegawa T, Yamada T, Morio T, Ohara O, Kashimada K. Adachi E, et al. Among authors: tajima t. J Clin Endocrinol Metab. 2024 Feb 20;109(3):750-760. doi: 10.1210/clinem/dgad577. J Clin Endocrinol Metab. 2024. PMID: 37804107
An unstable variant of GAP43 leads to neurodevelopmental deficiency.
Noda M, Matsumoto A, Ito H, Kagami M, Tajima T, Matsumura T, Yamagata T, Nagata KI. Noda M, et al. Among authors: tajima t. Sci Rep. 2024 Dec 30;14(1):31911. doi: 10.1038/s41598-024-83445-w. Sci Rep. 2024. PMID: 39738362 Free PMC article.
Newborn Screening in Japan-2021.
Tajima T. Tajima T. Int J Neonatal Screen. 2022 Jan 4;8(1):3. doi: 10.3390/ijns8010003. Int J Neonatal Screen. 2022. PMID: 35076455 Free PMC article.
1,558 results