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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: yogi a. J Clin Endocrinol Metab. 2024 Feb 20;109(3):750-760. doi: 10.1210/clinem/dgad577. J Clin Endocrinol Metab. 2024. PMID: 37804107
BMP2 is a potential causative gene for isolated dextrocardia situs solitus.
Yogi A, Iemura R, Nakatani H, Takasawa K, Gau M, Yamauchi T, Yoshida M, Moriyama K, Ishii T, Hosokawa S, Yamada M, Suzuki H, Kosaki K, Kashimada K, Morio T. Yogi A, et al. Eur J Med Genet. 2023 Sep;66(9):104820. doi: 10.1016/j.ejmg.2023.104820. Epub 2023 Aug 11. Eur J Med Genet. 2023. PMID: 37572998
Ataxia telangiectasia: a rare case report from Nepal.
Upreti A, Mandal P, Upreti A, Sapkota S, Acharya S, Yogi A, Gauchan B, Bhattarai S, Thapa L. Upreti A, et al. Among authors: yogi a. Ann Med Surg (Lond). 2024 Feb 15;86(4):2149-2153. doi: 10.1097/MS9.0000000000001831. eCollection 2024 Apr. Ann Med Surg (Lond). 2024. PMID: 38576962 Free PMC article.
82 results