Osamu Machida
Overview
Explore the profile of Osamu Machida including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
4
Citations
8
Followers
0
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Recent Articles
1.
Machida O, Sakamoto H, Shimojima Yamamoto K, Hasegawa Y, Nii S, Okada H, et al.
Intractable Rare Dis Res
. 2024 Feb;
13(1):36-41.
PMID: 38404736
Nucleotide variations or deletions in the NK2 homeobox 1 gene (), located at 14q13.3, lead to symptoms associated with the brain, lungs, and thyroid, and the combination of these phenotypes...
2.
Eto K, Machida O, Yanagishita T, Shimojima Yamamoto K, Chiba K, Aihara Y, et al.
Hum Genome Var
. 2022 Dec;
9(1):43.
PMID: 36470856
Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities (MIM # 618092) is a congenital disorder derived from pathogenic variants of the B-cell leukemia/lymphoma 11B gene (BCL11B). Several...
3.
Machida O, Yamamoto Shimojima K, Shiihara T, Akamine S, Kira R, Hasegawa Y, et al.
Intractable Rare Dis Res
. 2022 Oct;
11(3):143-148.
PMID: 36200032
Interstitial microdeletions in the proximal region of the long arm of chromosome 6 are rare. Herein we have reported 12 patients with developmental delays associated with interstitial microdeletions in 6q...
4.
Inoue Y, Machida O, Kita Y, Yamamoto T
Intractable Rare Dis Res
. 2022 Oct;
11(3):120-124.
PMID: 36200025
The guidelines provided by American College of Medical Genetics and Genomics (ACMG) and the Association of Molecular Pathology (AMP) (ACMG/AMP guidelines) suggest a framework for the classification of clinical variants....