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Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1.
Takeuchi I, Tanase-Nakao K, Ogawa A, Sugawara T, Migita O, Kashima M, Yamazaki T, Iguchi A, Naiki Y, Uchiyama T, Tamaoki J, Maeda H, Shimizu H, Kawai T, Taniguchi K, Hirata H, Kobayashi M, Matsumoto K, Naruse K, Hata K, Akutsu H, Kato T, Narumi S, Arai K, Ishiguro A. Takeuchi I, et al. Among authors: hata k. J Med Genet. 2024 Feb 21;61(3):239-243. doi: 10.1136/jmg-2023-109444. J Med Genet. 2024. PMID: 37833059 Free article.
Human genetic variation database, a reference database of genetic variations in the Japanese population.
Higasa K, Miyake N, Yoshimura J, Okamura K, Niihori T, Saitsu H, Doi K, Shimizu M, Nakabayashi K, Aoki Y, Tsurusaki Y, Morishita S, Kawaguchi T, Migita O, Nakayama K, Nakashima M, Mitsui J, Narahara M, Hayashi K, Funayama R, Yamaguchi D, Ishiura H, Ko WY, Hata K, Nagashima T, Yamada R, Matsubara Y, Umezawa A, Tsuji S, Matsumoto N, Matsuda F. Higasa K, et al. Among authors: hata k. J Hum Genet. 2016 Jun;61(6):547-53. doi: 10.1038/jhg.2016.12. Epub 2016 Feb 25. J Hum Genet. 2016. PMID: 26911352 Free PMC article.
Human cytomegalovirus downregulates SLITRK6 expression through IE2.
Liao H, Sato H, Chiba R, Kawai T, Nakabayashi K, Hata K, Akutsu H, Fujiwara S, Nakamura H. Liao H, et al. Among authors: hata k. J Neurovirol. 2017 Feb;23(1):79-86. doi: 10.1007/s13365-016-0475-y. Epub 2016 Aug 16. J Neurovirol. 2017. PMID: 27530937
NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty.
Shima H, Yatsuga S, Nakamura A, Sano S, Sasaki T, Katsumata N, Suzuki E, Hata K, Nakabayashi K, Momozawa Y, Kubo M, Okamura K, Kure S, Matsubara Y, Ogata T, Narumi S, Fukami M. Shima H, et al. Among authors: hata k. Sex Dev. 2016;10(4):205-209. doi: 10.1159/000448726. Epub 2016 Sep 21. Sex Dev. 2016. PMID: 27648561
Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.
Hattori A, Katoh-Fukui Y, Nakamura A, Matsubara K, Kamimaki T, Tanaka H, Dateki S, Adachi M, Muroya K, Yoshida S, Ida S, Mitani M, Nagasaki K, Ogata T, Suzuki E, Hata K, Nakabayashi K, Matsubara Y, Narumi S, Tanaka T, Fukami M. Hattori A, et al. Among authors: hata k. Endocr J. 2017 Oct 28;64(10):947-954. doi: 10.1507/endocrj.EJ17-0150. Epub 2017 Aug 3. Endocr J. 2017. PMID: 28768959 Free article.
CTCF deletion syndrome: clinical features and epigenetic delineation.
Hori I, Kawamura R, Nakabayashi K, Watanabe H, Higashimoto K, Tomikawa J, Ieda D, Ohashi K, Negishi Y, Hattori A, Sugio Y, Wakui K, Hata K, Soejima H, Kurosawa K, Saitoh S. Hori I, et al. Among authors: hata k. J Med Genet. 2017 Dec;54(12):836-842. doi: 10.1136/jmedgenet-2017-104854. Epub 2017 Aug 28. J Med Genet. 2017. PMID: 28848059
Somatic MECOM mosaicism in a patient with congenital bone marrow failure without a radial abnormality.
Osumi T, Tsujimoto SI, Nakabayashi K, Taniguchi M, Shirai R, Yoshida M, Uchiyama T, Nagasawa J, Goyama S, Yoshioka T, Tomizawa D, Kurokawa M, Matsubara Y, Kiyokawa N, Matsumoto K, Hata K, Kato M. Osumi T, et al. Among authors: hata k. Pediatr Blood Cancer. 2018 Jun;65(6):e26959. doi: 10.1002/pbc.26959. Epub 2018 Jan 22. Pediatr Blood Cancer. 2018. PMID: 29356389 No abstract available.
1,840 results