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98 results

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Page 1
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search.
Mutai H, Miya F, Nara K, Yamamoto N, Inoue S, Murakami H, Namba K, Shitara H, Minami S, Nakano A, Arimoto Y, Morimoto N, Kawasaki T, Wasano K, Fujioka M, Uchida Y, Kaga K, Yamazawa K, Kikkawa Y, Kosaki K, Tsunoda T, Matsunaga T. Mutai H, et al. Among authors: yamazawa k. Hum Genet. 2025 Jan;144(1):93-112. doi: 10.1007/s00439-024-02719-5. Epub 2025 Jan 4. Hum Genet. 2025. PMID: 39755840
Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance.
Urakawa T, Soejima H, Yamoto K, Hara-Isono K, Nakamura A, Kawashima S, Narusawa H, Kosaki R, Nishimura Y, Yamazawa K, Hattori T, Muramatsu Y, Inoue T, Matsubara K, Fukami M, Saitoh S, Ogata T, Kagami M. Urakawa T, et al. Among authors: yamazawa k. Clin Epigenetics. 2024 Oct 5;16(1):138. doi: 10.1186/s13148-024-01744-5. Clin Epigenetics. 2024. PMID: 39369220 Free PMC article.
Morphomics via next-generation electron microscopy.
Son R, Yamazawa K, Oguchi A, Suga M, Tamura M, Yanagita M, Murakawa Y, Kume S. Son R, et al. Among authors: yamazawa k. J Mol Cell Biol. 2024 Apr 10;15(12):mjad081. doi: 10.1093/jmcb/mjad081. J Mol Cell Biol. 2024. PMID: 38148118 Free PMC article. Review.
Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes.
Hara-Isono K, Matsubara K, Nakamura A, Sano S, Inoue T, Kawashima S, Fuke T, Yamazawa K, Fukami M, Ogata T, Kagami M. Hara-Isono K, et al. Among authors: yamazawa k. Clin Epigenetics. 2023 May 6;15(1):78. doi: 10.1186/s13148-023-01494-w. Clin Epigenetics. 2023. PMID: 37147716 Free PMC article.
The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition.
Yamazawa K, Sugano K, Tanakaya K, Inoue S, Murakami H, Nakashima M, Adachi M, Oki S, Makabe T, Yamashita H, Ueki A, Sasaoka A, Nakashoji A, Kinoshita T, Matsunaga T, Arai M, Nakamura S, Miyata H, Ikegami M, Mano H, Kohsaka S, Matsui A. Yamazawa K, et al. Cancer Sci. 2023 Jul;114(7):2993-3002. doi: 10.1111/cas.15799. Epub 2023 Apr 17. Cancer Sci. 2023. PMID: 37067535 Free PMC article.
Quantitative Real-Time RT-PCR Systems to Detect SARS-CoV-2.
Yanase S, Sasahara H, Nabetani M, Yamazawa K, Aoyagi K, Mita A, Honma Y, Chiba Y. Yanase S, et al. Among authors: yamazawa k. Methods Mol Biol. 2022;2511:89-97. doi: 10.1007/978-1-0716-2395-4_7. Methods Mol Biol. 2022. PMID: 35838954
98 results