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Year Number of Results
2016 1
2017 4
2018 4
2019 5
2020 1
2021 1
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14 results
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Page 1
A novel CUL4B splice site variant in a young male exhibiting less pronounced features.
Nakamura Y, Okuno Y, Muramatsu H, Kawai T, Satou K, Ieda D, Hori I, Ohashi K, Negishi Y, Hattori A, Takahashi Y, Kojima S, Saitoh S. Nakamura Y, et al. Among authors: ieda d. Hum Genome Var. 2019 Sep 4;6:43. doi: 10.1038/s41439-019-0074-6. eCollection 2019. Hum Genome Var. 2019. PMID: 31645981 Free PMC article.
CTCF deletion syndrome: clinical features and epigenetic delineation.
Hori I, Kawamura R, Nakabayashi K, Watanabe H, Higashimoto K, Tomikawa J, Ieda D, Ohashi K, Negishi Y, Hattori A, Sugio Y, Wakui K, Hata K, Soejima H, Kurosawa K, Saitoh S. Hori I, et al. Among authors: ieda d. J Med Genet. 2017 Dec;54(12):836-842. doi: 10.1136/jmedgenet-2017-104854. Epub 2017 Aug 28. J Med Genet. 2017. PMID: 28848059
Molecular genetic analysis of 30 families with Joubert syndrome.
Suzuki T, Miyake N, Tsurusaki Y, Okamoto N, Alkindy A, Inaba A, Sato M, Ito S, Muramatsu K, Kimura S, Ieda D, Saitoh S, Hiyane M, Suzumura H, Yagyu K, Shiraishi H, Nakajima M, Fueki N, Habata Y, Ueda Y, Komatsu Y, Yan K, Shimoda K, Shitara Y, Mizuno S, Ichinomiya K, Sameshima K, Tsuyusaki Y, Kurosawa K, Sakai Y, Haginoya K, Kobayashi Y, Yoshizawa C, Hisano M, Nakashima M, Saitsu H, Takeda S, Matsumoto N. Suzuki T, et al. Among authors: ieda d. Clin Genet. 2016 Dec;90(6):526-535. doi: 10.1111/cge.12836. Epub 2016 Sep 26. Clin Genet. 2016. PMID: 27434533
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