Publications by authors named "Osamu Machida"

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Haploinsufficiency of is likely to contribute to developmental delay involving 14q13 microdeletions.
Osamu Machida, Haruko Sakamoto, Keiko Shimojima Yamamoto, Yuiko Hasegawa, Satoi Nii

Intractable Rare Dis Res· February 2024

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Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis.
Kaoru Eto, Osamu Machida, Tomoe Yanagishita, Keiko Shimojima Yamamoto, Kentaro Chiba

Hum Genome Var· December 2022

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Need for revision of the ACMG/AMP guidelines for interpretation of X-linked variants.
Yoko Inoue, Osamu Machida, Yosuke Kita, Toshiyuki Yamamoto

Intractable Rare Dis Res· August 2022

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Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review.
Osamu Machida, Keiko Yamamoto Shimojima, Takashi Shiihara, Satoshi Akamine, Ryutaro Kira

Intractable Rare Dis Res· August 2022

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