Machida O - Search Results

Your saved search

Your RSS Feed

Page 1

Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review.

Machida O, Shimojima KY, Shiihara T, Akamine S, Kira R, Hasegawa Y, Nishi E, Okamoto N, Nagata S, Yamamoto T. Machida O, et al. Intractable Rare Dis Res. 2022 Aug;11(3):143-148. doi: 10.5582/irdr.2022.01065. Intractable Rare Dis Res. 2022. PMID: 36200032 Free PMC article.

Need for revision of the ACMG/AMP guidelines for interpretation of X-linked variants.

Inoue Y, Machida O, Kita Y, Yamamoto T. Inoue Y, et al. Among authors: machida o. Intractable Rare Dis Res. 2022 Aug;11(3):120-124. doi: 10.5582/irdr.2022.01067. Intractable Rare Dis Res. 2022. PMID: 36200025 Free PMC article.

Haploinsufficiency of NKX2-1 is likely to contribute to developmental delay involving 14q13 microdeletions.

Machida O, Sakamoto H, Yamamoto KS, Hasegawa Y, Nii S, Okada H, Nishikawa K, Sumimoto SI, Nishi E, Okamoto N, Yamamoto T. Machida O, et al. Intractable Rare Dis Res. 2024 Feb;13(1):36-41. doi: 10.5582/irdr.2023.01119. Intractable Rare Dis Res. 2024. PMID: 38404736 Free PMC article.

Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis.

Eto K, Machida O, Yanagishita T, Shimojima Yamamoto K, Chiba K, Aihara Y, Hasegawa Y, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Nagata S, Yamamoto T. Eto K, et al. Among authors: machida o. Hum Genome Var. 2022 Dec 5;9(1):43. doi: 10.1038/s41439-022-00220-x. Hum Genome Var. 2022. PMID: 36470856 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

4 results

Search Page

Filters