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684 results

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Page 1
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.
Komatsuzaki S, Aoki Y, Niihori T, Okamoto N, Hennekam RC, Hopman S, Ohashi H, Mizuno S, Watanabe Y, Kamasaki H, Kondo I, Moriyama N, Kurosawa K, Kawame H, Okuyama R, Imaizumi M, Rikiishi T, Tsuchiya S, Kure S, Matsubara Y. Komatsuzaki S, et al. Among authors: moriyama n. J Hum Genet. 2010 Dec;55(12):801-9. doi: 10.1038/jhg.2010.116. Epub 2010 Sep 30. J Hum Genet. 2010. PMID: 20882035
Bardet-Biedl syndrome and related disorders in Japan.
Hirano M, Satake W, Moriyama N, Saida K, Okamoto N, Cha PC, Suzuki Y, Kusunoki S, Toda T. Hirano M, et al. Among authors: moriyama n. J Hum Genet. 2020 Oct;65(10):847-853. doi: 10.1038/s10038-020-0778-y. Epub 2020 May 25. J Hum Genet. 2020. PMID: 32451492
Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.
Aramaki M, Udaka T, Kosaki R, Makita Y, Okamoto N, Yoshihashi H, Oki H, Nanao K, Moriyama N, Oku S, Hasegawa T, Takahashi T, Fukushima Y, Kawame H, Kosaki K. Aramaki M, et al. Among authors: moriyama n. J Pediatr. 2006 Mar;148(3):410-4. doi: 10.1016/j.jpeds.2005.10.044. J Pediatr. 2006. PMID: 16615981
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies.
Miyamoto S, Kato M, Hiraide T, Shiohama T, Goto T, Hojo A, Ebata A, Suzuki M, Kobayashi K, Chong PF, Kira R, Matsushita HB, Ikeda H, Hoshino K, Matsufuji M, Moriyama N, Furuyama M, Yamamoto T, Nakashima M, Saitsu H. Miyamoto S, et al. Among authors: moriyama n. J Hum Genet. 2021 Nov;66(11):1061-1068. doi: 10.1038/s10038-021-00932-y. Epub 2021 May 6. J Hum Genet. 2021. PMID: 33958710
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.
Saitsu H, Kato M, Osaka H, Moriyama N, Horita H, Nishiyama K, Yoneda Y, Kondo Y, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N. Saitsu H, et al. Among authors: moriyama n. Epilepsia. 2012 Aug;53(8):1441-9. doi: 10.1111/j.1528-1167.2012.03548.x. Epub 2012 Jun 18. Epilepsia. 2012. PMID: 22709267 Free article.
Forty-two-day-old boy with acute idiopathic thrombocytopenic purpura.
Kato K, Kobayashi C, Katayama Y, Moriyama N, Shiono J, Kudo K, Koike K, Aoki K, Fujisawa K, Okada M, Matsumoto M, Fujimura Y, Tsuchida M. Kato K, et al. Among authors: moriyama n. Pediatr Int. 2010 Jun;52(3):485-7. doi: 10.1111/j.1442-200X.2010.03037.x. Pediatr Int. 2010. PMID: 20723123 No abstract available.
684 results