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Sustained endocrine profiles of a girl with WAGR syndrome.
Takada Y, Sakai Y, Matsushita Y, Ohkubo K, Koga Y, Akamine S, Torio M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Kagami M, Hara T, Ohga S. Takada Y, et al. BMC Med Genet. 2017 Oct 23;18(1):117. doi: 10.1186/s12881-017-0477-5. BMC Med Genet. 2017. PMID: 29061165 Free PMC article.
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.
Imagawa E, Higashimoto K, Sakai Y, Numakura C, Okamoto N, Matsunaga S, Ryo A, Sato Y, Sanefuji M, Ihara K, Takada Y, Nishimura G, Saitsu H, Mizuguchi T, Miyatake S, Nakashima M, Miyake N, Soejima H, Matsumoto N. Imagawa E, et al. Among authors: takada y. Hum Mutat. 2017 Jun;38(6):637-648. doi: 10.1002/humu.23200. Epub 2017 Mar 15. Hum Mutat. 2017. PMID: 28229514
Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency.
Morita A, Enokizono T, Ohto T, Tanaka M, Watanabe S, Takada Y, Iwama K, Mizuguchi T, Matsumoto N, Morita M, Takashima S, Shimozawa N, Takada H. Morita A, et al. Among authors: takada y, takada h. Brain Dev. 2021 Mar;43(3):475-481. doi: 10.1016/j.braindev.2020.10.011. Epub 2020 Nov 21. Brain Dev. 2021. PMID: 33234382
1,832 results