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Year Number of Results
2007 3
2008 1
2009 1
2010 2
2011 1
2014 4
2015 6
2016 6
2017 6
2018 6
2019 3
2020 4
2021 7
2022 3
2024 1

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49 results

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Page 1
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Mundi Dhahrabi HA, Elcioglu NH, GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP. Martin CA, et al. Among authors: kohda m. Am J Hum Genet. 2024 May 2;111(5):996. doi: 10.1016/j.ajhg.2024.04.008. Am J Hum Genet. 2024. PMID: 38701747 Free PMC article. No abstract available.
Establishment of preanalytical conditions for microRNA profile analysis of clinical plasma samples.
Suzuki K, Yamaguchi T, Kohda M, Tanaka M, Takemura H, Wakita M, Tabe Y, Kato S, Nasu M, Hashimoto T, Mine S, Serizawa N, Tomishima K, Nagahara A, Matsuda T, Yamaji T, Tsugane S, Saito Y, Daiko H, Yoshikawa T, Kato K, Okusaka T, Ochiya T, Yamamoto Y, Yotsui S, Yamamoto T, Yamasaki T, Miyata H, Yasui M, Omori T, Ohkawa K, Ikezawa K, Nakabori T, Sugimoto N, Kudo T, Yoshida K, Ohue M, Nishizawa T. Suzuki K, et al. Among authors: kohda m. PLoS One. 2022 Dec 14;17(12):e0278927. doi: 10.1371/journal.pone.0278927. eCollection 2022. PLoS One. 2022. PMID: 36516194 Free PMC article.
A Japanese patient with neonatal biotin-responsive basal ganglia disease.
Kobayashi M, Suzuki Y, Nodera M, Matsunaga A, Kohda M, Okazaki Y, Murayama K, Yamagata T, Osaka H. Kobayashi M, et al. Among authors: kohda m. Hum Genome Var. 2022 Sep 29;9(1):35. doi: 10.1038/s41439-022-00210-z. Hum Genome Var. 2022. PMID: 36175418 Free PMC article.
Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.
Akiyama N, Shimura M, Yamazaki T, Harashima H, Fushimi T, Tsuruoka T, Ebihara T, Ichimoto K, Matsunaga A, Saito-Tsuruoka M, Yatsuka Y, Kishita Y, Kohda M, Namba A, Kamei Y, Okazaki Y, Kosugi S, Ohtake A, Murayama K. Akiyama N, et al. Among authors: kohda m. Sci Rep. 2021 Nov 16;11(1):22682. doi: 10.1038/s41598-021-02108-2. Sci Rep. 2021. PMID: 34785734 Free PMC article. No abstract available.
Valine metabolites analysis in ECHS1 deficiency.
Kuwajima M, Kojima K, Osaka H, Hamada Y, Jimbo E, Watanabe M, Aoki S, Sato-Shirai I, Ichimoto K, Fushimi T, Murayama K, Ohtake A, Kohda M, Kishita Y, Yatsuka Y, Uchino S, Mimaki M, Miyake N, Matsumoto N, Okazaki Y, Ogata T, Yamagata T, Muramatsu K. Kuwajima M, et al. Among authors: kohda m. Mol Genet Metab Rep. 2021 Oct 9;29:100809. doi: 10.1016/j.ymgmr.2021.100809. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34667719 Free PMC article.
Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients.
Imai-Okazaki A, Matsunaga A, Yatsuka Y, Nitta KR, Kishita Y, Sugiura A, Sugiyama Y, Fushimi T, Shimura M, Ichimoto K, Tajika M, Ogawa-Tominaga M, Ebihara T, Matsuhashi T, Tsuruoka T, Kohda M, Hirata T, Harashima H, Nojiri S, Takeda A, Nakaya A, Kogaki S, Sakata Y, Ohtake A, Murayama K, Okazaki Y. Imai-Okazaki A, et al. Among authors: kohda m. Int J Cardiol. 2021 Oct 15;341:48-55. doi: 10.1016/j.ijcard.2021.06.042. Epub 2021 Jul 21. Int J Cardiol. 2021. PMID: 34298071 Free article.
A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome.
Kishita Y, Ishikawa K, Nakada K, Hayashi JI, Fushimi T, Shimura M, Kohda M, Ohtake A, Murayama K, Okazaki Y. Kishita Y, et al. Among authors: kohda m. Sci Rep. 2021 May 27;11(1):11123. doi: 10.1038/s41598-021-90196-5. Sci Rep. 2021. PMID: 34045482 Free PMC article.
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.
Akiyama N, Shimura M, Yamazaki T, Harashima H, Fushimi T, Tsuruoka T, Ebihara T, Ichimoto K, Matsunaga A, Saito-Tsuruoka M, Yatsuka Y, Kishita Y, Kohda M, Namba A, Kamei Y, Okazaki Y, Kosugi S, Ohtake A, Murayama K. Akiyama N, et al. Among authors: kohda m. Sci Rep. 2021 Feb 11;11(1):3531. doi: 10.1038/s41598-021-81015-y. Sci Rep. 2021. PMID: 33574353 Free PMC article.
49 results