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Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Murakami H, Tsurusaki Y, Enomoto K, Kuroda Y, Yokoi T, Furuya N, Yoshihashi H, Minatogawa M, Abe-Hatano C, Ohashi I, Nishimura N, Kumaki T, Enomoto Y, Naruto T, Iwasaki F, Harada N, Ishikawa A, Kawame H, Sameshima K, Yamaguchi Y, Kobayashi M, Tominaga M, Ishikiriyama S, Tanaka T, Suzumura H, Ninomiya S, Kondo A, Kaname T, Kosaki K, Masuno M, Kuroki Y, Kurosawa K. Murakami H, et al. Among authors: harada n. Am J Med Genet A. 2020 Oct;182(10):2333-2344. doi: 10.1002/ajmg.a.61793. Epub 2020 Aug 17. Am J Med Genet A. 2020. PMID: 32803813
Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.
Enomoto Y, Yokoi T, Tsurusaki Y, Murakami H, Tominaga M, Minatogawa M, Abe-Hatano C, Kuroda Y, Ohashi I, Ida K, Shiiya S, Kumaki T, Naruto T, Mitsui J, Harada N, Kido Y, Kurosawa K. Enomoto Y, et al. Among authors: harada n. Clin Genet. 2022 Mar;101(3):335-345. doi: 10.1111/cge.14103. Epub 2022 Jan 4. Clin Genet. 2022. PMID: 34958122
Advantage of spirometry over oscillometry to detect dupilumab's effect on small airway dysfunction.
Shirai T, Hirai K, Akamatsu T, Mizumura K, Sasano H, Harada N, Tanaka A, Sagara H, Masaki K, Fukunaga K, Kobayashi K, Nagase H, Miyahara N, Kanehiro A, Kitamura N, Sugihara N, Terada-Hirashima J, Hojo M, Chibana K, Tagaya E, Gon Y. Shirai T, et al. Among authors: harada n. Allergol Int. 2025 Jan 13:S1323-8930(24)00161-8. doi: 10.1016/j.alit.2024.12.004. Online ahead of print. Allergol Int. 2025. PMID: 39809630 Free article. No abstract available.
Automated Assessment of the Pulmonary Artery-to-Ascending Aorta Ratio in Fetal Cardiac Ultrasound Screening Using Artificial Intelligence.
Aoyama R, Komatsu M, Harada N, Komatsu R, Sakai A, Takeda K, Teraya N, Asada K, Kaneko S, Iwamoto K, Matsuoka R, Sekizawa A, Hamamoto R. Aoyama R, et al. Among authors: harada n. Bioengineering (Basel). 2024 Dec 12;11(12):1256. doi: 10.3390/bioengineering11121256. Bioengineering (Basel). 2024. PMID: 39768074 Free PMC article.
2,478 results