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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.
Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.
Moteki H, Azaiez H, Sloan-Heggen CM, Booth K, Nishio SY, Wakui K, Yamaguchi T, Kolbe DL, Iwasa YI, Shearer AE, Fukushima Y, Smith RJ, Usami SI. Moteki H, et al. Among authors: wakui k. Ann Otol Rhinol Laryngol. 2016 Nov;125(11):918-923. doi: 10.1177/0003489416661345. Epub 2016 Jul 28. Ann Otol Rhinol Laryngol. 2016. PMID: 27469136 Free PMC article.
Myelodysplastic syndrome in a child with 15q24 deletion syndrome.
Narumi Y, Shiohara M, Wakui K, Hama A, Kojima S, Yoshikawa K, Amano Y, Kosho T, Fukushima Y. Narumi Y, et al. Among authors: wakui k. Am J Med Genet A. 2012 Feb;158A(2):412-6. doi: 10.1002/ajmg.a.34395. Epub 2011 Dec 2. Am J Med Genet A. 2012. PMID: 22140075
Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation.
Yamazaki M, Kosho T, Kawachi S, Mikoshiba M, Takahashi J, Sano R, Oka K, Yoshida K, Watanabe T, Kato H, Komatsu M, Kawamura R, Wakui K, Knappskog PM, Boman H, Fukushima Y. Yamazaki M, et al. Among authors: wakui k. Am J Med Genet A. 2010 Mar;152A(3):764-9. doi: 10.1002/ajmg.a.33315. Am J Med Genet A. 2010. PMID: 20186812
218 results