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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1973 1
1996 1
2010 1
2012 1
2013 1
2014 2
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2016 4
2017 5
2018 6
2019 6
2020 12
2021 10
2022 4
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51 results
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Page 1
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
Kohda M, Tokuzawa Y, Kishita Y, Nyuzuki H, Moriyama Y, Mizuno Y, Hirata T, Yatsuka Y, Yamashita-Sugahara Y, Nakachi Y, Kato H, Okuda A, Tamaru S, Borna NN, Banshoya K, Aigaki T, Sato-Miyata Y, Ohnuma K, Suzuki T, Nagao A, Maehata H, Matsuda F, Higasa K, Nagasaki M, Yasuda J, Yamamoto M, Fushimi T, Shimura M, Kaiho-Ichimoto K, Harashima H, Yamazaki T, Mori M, Murayama K, Ohtake A, Okazaki Y. Kohda M, et al. Among authors: kishita y. PLoS Genet. 2016 Jan 7;12(1):e1005679. doi: 10.1371/journal.pgen.1005679. eCollection 2016 Jan. PLoS Genet. 2016. PMID: 26741492 Free PMC article.
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: kishita y. 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.
Trigenic ADH5/ALDH2/ADGRV1 mutations in myelodysplasia with Usher syndrome.
Kinoshita S, Ando M, Ando J, Ishii M, Furukawa Y, Tomita O, Azusawa Y, Shirane S, Kishita Y, Yatsuka Y, Eguchi H, Okazaki Y, Komatsu N. Kinoshita S, et al. Among authors: kishita y. Heliyon. 2021 Aug 14;7(8):e07804. doi: 10.1016/j.heliyon.2021.e07804. eCollection 2021 Aug. Heliyon. 2021. PMID: 34458631 Free PMC article.
Barth Syndrome: Different Approaches to Diagnosis.
Imai-Okazaki A, Kishita Y, Kohda M, Yatsuka Y, Hirata T, Mizuno Y, Harashima H, Hirono K, Ichida F, Noguchi A, Yoshida M, Tokorodani C, Nishiuchi R, Takeda A, Nakaya A, Sakata Y, Murayama K, Ohtake A, Okazaki Y. Imai-Okazaki A, et al. Among authors: kishita y. J Pediatr. 2018 Feb;193:256-260. doi: 10.1016/j.jpeds.2017.09.075. Epub 2017 Dec 15. J Pediatr. 2018. PMID: 29249525
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: kishita y. 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.
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: kishita y. Sci Rep. 2021 Feb 11;11(1):3531. doi: 10.1038/s41598-021-81015-y. Sci Rep. 2021. PMID: 33574353 Free PMC article.
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
Frazier AE, Compton AG, Kishita Y, Hock DH, Welch AE, Amarasekera SSC, Rius R, Formosa LE, Imai-Okazaki A, Francis D, Wang M, Lake NJ, Tregoning S, Jabbari JS, Lucattini A, Nitta KR, Ohtake A, Murayama K, Amor DJ, McGillivray G, Wong FY, van der Knaap MS, Jeroen Vermeulen R, Wiltshire EJ, Fletcher JM, Lewis B, Baynam G, Ellaway C, Balasubramaniam S, Bhattacharya K, Freckmann ML, Arbuckle S, Rodriguez M, Taft RJ, Sadedin S, Cowley MJ, Minoche AE, Calvo SE, Mootha VK, Ryan MT, Okazaki Y, Stroud DA, Simons C, Christodoulou J, Thorburn DR. Frazier AE, et al. Among authors: kishita y. Med (N Y). 2021 Jan 15;2(1):49-73. doi: 10.1016/j.medj.2020.06.004. Epub 2020 Jul 9. Med (N Y). 2021. PMID: 33575671 Free PMC 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. Sci Rep. 2021 May 27;11(1):11123. doi: 10.1038/s41598-021-90196-5. Sci Rep. 2021. PMID: 34045482 Free PMC article.
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, Dhahrabi HAM, 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: kishita y. Am J Hum Genet. 2018 Aug 2;103(2):221-231. doi: 10.1016/j.ajhg.2018.07.001. Epub 2018 Jul 26. Am J Hum Genet. 2018. PMID: 30057030 Free PMC article.
51 results