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Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia.
Kurosawa K, Enomoto K, Tominaga M, Furuya N, Sameshima K, Iai M, Take H, Shinkai M, Ishikawa H, Yamanaka M, Matsui K, Masuno M. Kurosawa K, et al. Among authors: masuno m. Congenit Anom (Kyoto). 2012 Jun;52(2):78-81. doi: 10.1111/j.1741-4520.2012.00357.x. Congenit Anom (Kyoto). 2012. PMID: 22639992
Pure duplication of 19p13.3.
Ishikawa A, Enomoto K, Tominaga M, Saito T, Nagai J, Furuya N, Ueno K, Ueda H, Masuno M, Kurosawa K. Ishikawa A, et al. Among authors: masuno m. Am J Med Genet A. 2013 Sep;161A(9):2300-4. doi: 10.1002/ajmg.a.36041. Epub 2013 Jul 29. Am J Med Genet A. 2013. PMID: 23897601
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Murakami H, Tsurusaki Y, Enomoto K, Kuroda Y, Yokoi T, Furuya N, Yoshihashi H, Minatogawa M, Abe-Hatano C, Ohashi I, Nishimura N, Kumaki T, Enomoto Y, Naruto T, Iwasaki F, Harada N, Ishikawa A, Kawame H, Sameshima K, Yamaguchi Y, Kobayashi M, Tominaga M, Ishikiriyama S, Tanaka T, Suzumura H, Ninomiya S, Kondo A, Kaname T, Kosaki K, Masuno M, Kuroki Y, Kurosawa K. Murakami H, et al. Among authors: masuno m. Am J Med Genet A. 2020 Oct;182(10):2333-2344. doi: 10.1002/ajmg.a.61793. Epub 2020 Aug 17. Am J Med Genet A. 2020. PMID: 32803813
Trends in occurrence of twin births in Japan.
Kurosawa K, Masuno M, Kuroki Y. Kurosawa K, et al. Among authors: masuno m. Am J Med Genet A. 2012 Jan;158A(1):75-7. doi: 10.1002/ajmg.a.34362. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22106070
139 results