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

Year Number of Results
2009 2
2010 5
2011 6
2012 14
2013 9
2014 15
2015 9
2016 6
2017 13
2018 13
2019 16
2020 20
2021 21
2022 17
2023 12
2024 4

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147 results

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Page 1
Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome.
Nishio Y, Kato K, Tran Mau-Them F, Futagawa H, Quélin C, Masuda S, Vitobello A, Otsuji S, Shawki HH, Oishi H, Thauvin-Robinet C, Takenouchi T, Kosaki K, Takahashi Y, Saitoh S. Nishio Y, et al. Among authors: takenouchi t. HGG Adv. 2023 Oct 12;4(4):100238. doi: 10.1016/j.xhgg.2023.100238. Epub 2023 Sep 14. HGG Adv. 2023. PMID: 37710961 Free PMC article.
Café-au-lait Spots and Cleft Palate: Not a Chance Association.
Yamada M, Tanito K, Suzuki H, Nakato D, Miya F, Takenouchi T, Kosaki K. Yamada M, et al. Among authors: takenouchi t. Cleft Palate Craniofac J. 2023 Jul 14:10556656231188205. doi: 10.1177/10556656231188205. Online ahead of print. Cleft Palate Craniofac J. 2023. PMID: 37448313
Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences.
Yamada M, Nitta Y, Uehara T, Suzuki H, Miya F, Takenouchi T, Tamura M, Ayabe S, Yoshiki A, Maeno A, Saga Y, Furuse T, Yamada I, Okamoto N, Kosaki K, Sugie A. Yamada M, et al. Among authors: takenouchi t. Eur J Med Genet. 2023 Aug;66(8):104804. doi: 10.1016/j.ejmg.2023.104804. Epub 2023 Jun 25. Eur J Med Genet. 2023. PMID: 37369308
Oculofaciocardiodental syndrome caused by a novel BCOR variant.
Yamashita T, Hotta J, Jogu Y, Sakai E, Ono C, Bamba H, Suzuki H, Yamada M, Takenouchi T, Kosaki K, Yorifuji T, Hamazaki T, Seto T. Yamashita T, et al. Among authors: takenouchi t. Hum Genome Var. 2023 Jun 12;10(1):18. doi: 10.1038/s41439-023-00244-x. Hum Genome Var. 2023. PMID: 37308473 Free PMC article.
Oral Baclofen Therapy for Multifocal Spinal Myoclonus with TBC1D24 Variant.
Murofushi Y, Hayakawa I, Kawai M, Abe Y, Kosaki R, Suzuki H, Takenouchi T, Kubota M. Murofushi Y, et al. Among authors: takenouchi t. Mov Disord Clin Pract. 2023 Feb 24;10(4):719-721. doi: 10.1002/mdc3.13701. eCollection 2023 Apr. Mov Disord Clin Pract. 2023. PMID: 37070046 Free PMC article. No abstract available.
147 results