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

Year Number of Results
2002 2
2003 3
2004 3
2005 6
2006 2
2007 5
2008 4
2009 1
2010 10
2011 5
2012 6
2013 3
2014 4
2015 2
2016 2
2017 3
2018 2
2019 4
2021 3
2022 2
2023 2
2024 0

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64 results

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Page 1
Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.
Yamaguchi T, Hayashi S, Hayashi D, Matsuyama T, Koitabashi N, Ogiwara K, Noda M, Nakada C, Fujiki S, Furutachi A, Tanabe Y, Yamanaka M, Ishikawa A, Mizukami M, Mizuguchi A, Sugiura K, Sumi M, Yamazawa H, Izawa A, Wada Y, Fujikawa T, Takiguchi Y, Wakui K, Takano K, Nishio SY, Kosho T. Yamaguchi T, et al. Among authors: wakui k. Am J Med Genet A. 2023 Jan;191(1):37-51. doi: 10.1002/ajmg.a.62982. Epub 2022 Oct 3. Am J Med Genet A. 2023. PMID: 36189931 Free PMC article.
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2.
Hara-Isono K, Matsubara K, Hamada R, Shimada S, Yamaguchi T, Wakui K, Miyazaki O, Muroya K, Kurosawa K, Fukami M, Ogata T, Kosho T, Kagami M. Hara-Isono K, et al. Among authors: wakui k. J Hum Genet. 2021 Nov;66(11):1121-1126. doi: 10.1038/s10038-021-00937-7. Epub 2021 May 24. J Hum Genet. 2021. PMID: 34031513
Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis.
Hanafusa H, Hidaka Y, Yamaguchi T, Shimojo H, Tsukahara T, Murase T, Matsuoka D, Chiba N, Shimada S, Morokawa H, Omori N, Minoura H, Nagano C, Takano K, Nakamura K, Wakui K, Fukushima Y, Uehara T, Nakazawa Y, Iijima K, Nozu K, Kosho T. Hanafusa H, et al. Among authors: wakui k. Am J Med Genet A. 2021 Jul;185(7):2175-2179. doi: 10.1002/ajmg.a.62216. Epub 2021 Apr 21. Am J Med Genet A. 2021. PMID: 33884742
Frequency and clinical features of hearing loss caused by STRC deletions.
Yokota Y, Moteki H, Nishio SY, Yamaguchi T, Wakui K, Kobayashi Y, Ohyama K, Miyazaki H, Matsuoka R, Abe S, Kumakawa K, Takahashi M, Sakaguchi H, Uehara N, Ishino T, Kosho T, Fukushima Y, Usami SI. Yokota Y, et al. Among authors: wakui k. Sci Rep. 2019 Mar 13;9(1):4408. doi: 10.1038/s41598-019-40586-7. Sci Rep. 2019. PMID: 30867468 Free PMC article.
Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients.
Kawashima S, Nakamura A, Inoue T, Matsubara K, Horikawa R, Wakui K, Takano K, Fukushima Y, Tatematsu T, Mizuno S, Tsubaki J, Kure S, Matsubara Y, Ogata T, Fukami M, Kagami M. Kawashima S, et al. Among authors: wakui k. J Clin Endocrinol Metab. 2018 Jun 1;103(6):2083-2088. doi: 10.1210/jc.2017-02780. J Clin Endocrinol Metab. 2018. PMID: 29878129
64 results